Literature search at Indiana University, Bloomington, Indiana
MEDLINE EXPRESS (R) 10/97-1/98 1 of 30
TI: Ring chromosome 13 with loss of the region D13S317-D13S285: phenotypic overlap with XK syndrome.
AU: Guala-A; Dellavecchia-C; Mannarino-S; Rognone-F; Giglio-S; Minelli-A; Danesino-C
AD: Divisione di Pediatria, Ospedale Civile di Vigevano, Pavia, Italy.
SO: Am-J-Med-Genet. 1997 Oct 31; 72(3): 319-23
ISSN: 0148-7299
PY: 1997
LA: ENGLISH
CP: UNITED-STATES
AB: We report on a patient with a multiple congenital abnormalities/mental retardation (MCA/MR) syndrome including facial abnormalities, agenesis of the corpus callosum, heart defect, 1st ray anomalies of the upper limb, and ambiguous genitalia, whose phenotype overlaps a previous description of XK syndrome. The patient has a ring chromosome (13) with deletion 13q32-qter. Molecular analysis demonstrated loss of the region from D13S317 to D13S285 and a paternal origin of the anomaly.
MESH: Chromosome-Banding; Corpus-Callosum-abnormalities; Dinucleotide-Repeats; DNA-Mutational-Analysis; Gene-Deletion; Heart-Defects,-Congenital-genetics; Karyotyping-; Microcephaly-genetics; Microsatellite-Repeats; Pedigree-; Phenotype-; Polymorphism-Genetics; Syndrome-
MESH: *Abnormalities,-Multiple-genetics; *Chromosomes,-Human,-Pair-13; *Ring-Chromosomes
TG: Case-Report; Human; Male; Support,-Non-U.S.-Gov't
PT: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES
AN: 97473820
UD: 9801
MEDLINE EXPRESS (R) 10/97-1/98 2 of 30
TI: CRASH syndrome: mutations in L1CAM correlate with severity of the disease.
AU: Yamasaki-M; Thompson-P; Lemmon-V
AD: Department of Neurosciences, Case Western Reserve Univ., Cleveland, OH, USA.
SO: Neuropediatrics. 1997 Jun; 28(3): 175-8
ISSN: 0174-304X
PY: 1997
LA: ENGLISH
CP: GERMANY
AB: X-linked hydrocephalus, MASA syndrome and certain forms of X-linked spastic paraplegia and agenesis of corpus callosum are now known to be due to mutations in the gene for the neural cell adhesion molecule L1 (19, 30). As a result, these syndromes have recently been reclassified as CRASH syndrome, an acronym for Corpus callosum hypoplasia, Retardation, Adducted thumbs, Spasticity and Hydrocephalus (8). A comparison of existing case reports with molecular genetic analysis reveals a striking correlation between the type of mutation in the L1CAM gene and the severity of the disease. Mutations that produce truncations in the extracellular domain of the L1 protein are more likely to produce severe hydrocephalus, grave mental retardation or early death than point mutations in the extracellular domain or mutations affecting only the cytoplasmic domain of the protein. While less severe than extracellular truncations, point mutations in the extracellular domain do produce more severe neurologic problems than mutations in just the cytoplasmic domain.
MESH: Chi-Square-Distribution; Corpus-Callosum-abnormalities; Cross-Sectional-Studies; Linkage-Genetics; NCAM-chemistry; Phenotype-; Spastic-Paraplegia,-Hereditary-genetics; Syndrome-; Thumb-abnormalities; X-Chromosome-genetics
MESH: *Abnormalities,-Multiple-genetics; *Hydrocephalus-genetics; *Mental-Retardation-genetics; *Mutation-; *NCAM-genetics; *Severity-of-Illness-Index
TG: Human; Support,-U.S.-Gov't,-P.H.S.
PT: JOURNAL-ARTICLE
RN: 0; 0
NM: L1-antigen; NCAM
AN: 97411588
UD: 9712
MEDLINE EXPRESS (R) 10/97-1/98 3 of 30
TI: L1-associated diseases: clinical geneticists divide, molecular geneticists unite.
AU: Fransen-E; Van-Camp-G; Vits-L; Willems-PJ
AD: Department of Medical Genetics, University of Antwerp, Belgium.
SO: Hum-Mol-Genet. 1997; 6(10): 1625-32
ISSN: 0964-6906
PY: 1997
LA: ENGLISH
CP: ENGLAND
AB: The neuronal cell adhesion molecule L1 (L1CAM) is a transmembrane glycoprotein belonging to the immunoglobulin superfamily and is essential in the development of the nervous system. It is mainly expressed on neurons and Schwann cells, and plays a key role in axon outgrowth and pathfinding through interactions with various extracellular ligands and intracellular second messenger systems. Mutations in L1 are responsible for a wide spectrum of neurologic abnormalities and mental retardation. This spectrum includes X-linked hydrocephalus, MASA syndrome, X-linked complicated spastic paraplegia type 1 and X-linked agenesis of the corpus callosum. These four diseases were initially described as distinct clinical entities with an overlapping clinical spectrum, but can now be lumped into one syndrome caused by mutations in the L1 gene. The main clinical features of this spectrum are Corpus callosum hypoplasia, mental Retardation, Adducted thumbs, Spastic paraplegia and Hydrocephalus, which has led to the acronym CRASH syndrome.
MESH: Antigens,-Surface-genetics; Base-Sequence; Corpus-Callosum-abnormalities; Hydrocephalus-genetics; Molecular-Sequence-Data; Nervous-System-abnormalities; Nervous-System-physiology; Paraplegia-genetics; Syndrome-
MESH: *Mental-Retardation-genetics; *Mutation-; *Nervous-System-Diseases-genetics; *NCAM-genetics; *X-Chromosome
TG: Animal; Human; Support,-Non-U.S.-Gov't
PT: JOURNAL-ARTICLE; REVIEW; REVIEW,-ACADEMIC
RN: 0; 0; 0
NM: Antigens,-Surface; L1-antigen; NCAM
AN: 97444121
UD: 9712
SI: GENBANK/Z29373
MEDLINE EXPRESS (R) 10/97-1/98 4 of 30
TI: Monozygotic twins discordant for Aicardi syndrome.
AU: Costa-T; Greer-W; Rysiecki-G; Buncic-JR; Ray-PN
AD: Department of Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.
SO: J-Med-Genet. 1997 Aug; 34(8): 688-91
ISSN: 0022-2593
PY: 1997
LA: ENGLISH
CP: ENGLAND
AB: Aicardi syndrome is a developmental disorder characterised by agenesis of the corpus callosum, retinal lacunae, seizures, and developmental delay. It is believed to be X linked with lethality in males. We report a set of monozygotic female twins one of whom is healthy and intellectually normal while the other has the classical Aicardi phenotype with profound retardation. Family history is negative. Both had normal karyotypes. Monozygosity was established by blood grouping, chromosomal heteromorphisms, and DNA analysis using six hypervariable probes (five autosomal and one X linked) and three X linked RFLP probes. We tested the hypothesis that preferential inactivation of a different X chromosome had occurred in each girl. Methylation sensitive RFLP analysis of DNA from EBV transformed B lymphocytes and cultured skin fibroblasts using MspI/HpaII digestion and probing with M27 beta showed a very similar pattern of X inactivation in both twins with no evidence of preferential expression of one particular X chromosome. We conclude that the abnormalities in the affected twin are probably the consequence of a postzygotic mutation in early embryonic development.
MESH: Adult-; Corpus-Callosum-abnormalities; Deoxyribonuclease-HpaII-metabolism; Dosage-Compensation-Genetics; Herpesvirus-4,-Human; Karyotyping-; Linkage-Genetics; Pedigree-; Polymorphism,-Restriction-Fragment-Length; Retina-abnormalities; Syndrome-; X-Chromosome
MESH: *Abnormalities,-Multiple-genetics; *Diseases-in-Twins-genetics; *Twins,-Monozygotic-genetics
TG: Case-Report; Female; Human; Male
PT: JOURNAL-ARTICLE
RN: EC 3.1.21.-
NM: Deoxyribonuclease-HpaII
AN: 97425716
UD: 9712
MEDLINE EXPRESS (R) 10/97-1/98 5 of 30
TI: [Agenesis of the corpus callosum: modes of manifestation in adults]
TO: Agenesie du corps calleux: les modes de revelation chez l'adulte.
AU: Lemesle-M; Giroud-M; Madinier-G; Martin-D; Baudouin-N; Binnert-D; Dumas-R
AD: Service de Neurologie, CHU, Dijon.
SO: Rev-Neurol-Paris. 1997 May; 153(4): 256-61
ISSN: 0035-3787
PY: 1997
LA: FRENCH; NON-ENGLISH
CP: FRANCE
AB: Agenesis of corpus callosum is an uncommon brain malformation that is usually detected in childhood. In adult, focal epileptic seizure is the most frequent manifestation. Otherwise, asymptomatic patients can be detected by cerebral imagery with specific criteria. Neither developmental disability nor interhemispheric transfer dysfunction are observed in those patients. Minor facial abnormalities can be found. Agenesis of corpus callosum in adult is usually paucisymptomatic. The prognosis depends on cerebral associated malformations which are involved in epilepsy and cognitive disturbances.
MESH: Adolescence-; Adult-; Aged-; Corpus-Callosum-physiopathology; Electroencephalography-; English-Abstract; Epilepsy-physiopathology; Epilepsy,-Generalized-etiology; Epilepsy,-Generalized-physiopathology; Epilepsy,-Temporal-Lobe-etiology; Epilepsy,-Temporal-Lobe-physiopathology; Magnetic-Resonance-Imaging; Mental-Disorders-etiology; Middle-Age; Prognosis-; Time-Factors
MESH: *Corpus-Callosum-abnormalities; *Epilepsy-etiology
TG: Case-Report; Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 97441925
UD: 9712
MEDLINE EXPRESS (R) 10/97-1/98 6 of 30
TI: Polysyndactyly and trigonocephaly with partial agenesis of corpus callosum: an example of the variable clinical spectrum of the Acrocallosal syndrome? [letter]
AU: Fryns-JP; Devriendt-K; Legius-E
SO: Clin-Dysmorphol. 1997 Jul; 6(3): 285-6
ISSN: 0962-8827
PY: 1997
LA: ENGLISH
CP: ENGLAND
MESH: Diagnosis,-Differential; Face-abnormalities; Syndrome-
MESH: *Abnormalities,-Multiple-diagnosis; *Corpus-Callosum-abnormalities; *Frontal-Bone-abnormalities; *Polydactyly-complications; *Syndactyly-complications
TG: Human
PT: LETTER
AN: 97363910
UD: 9711
MEDLINE EXPRESS (R) 10/97-1/98 7 of 30
TI: [Andermann syndrome: presentation of a case]
TO: Sindrome de Andermann. Presentacion de un caso.
AU: Gurtubay-IG; Yoldi-ME; Carrera-B; Morales-G; Berrade-S; Alvarez-MJ
AD: Servicio de Neurofisiologia Clinica, Hospital Virgen del Camino, Pamplona, Navarra, Espana.
SO: Rev-Neurol. 1997 Jul; 25(143): 1087-90
ISSN: 0210-0010
PY: 1997
LA: SPANISH; NON-ENGLISH
CP: SPAIN
AB: INTRODUCTION: Peripheral neuropathy with agenesis of the corpus callosum (or Andermann's syndrome) is a hereditary autosomal recessive disorder rarely found outside certain regions of Quebec Province (Canada). It is associated with mental retardation and various dysmorphic changes. Deterioration is usually progressive with loss of motor skills, development of scoliosis during adolescence, tendency to behaviour disorders and death during the third decade (approximately). CLINICAL CASE: We present a 13 year old girl diagnosed as having the spastic tetraparesic type of PCI, who was sent to us so that we could reconsider the diagnosis in view of the atypical course of the illness. The patient had an unusual phenotype with dysmorphic changes (mainly facial), axial hypotonia with flexion-retraction of the hands, generalized arreflexia, neurogenic bladder, skin changes with ulcers on the legs and mental retardation. Neurophysiological studies showed a predominantly motor polyneuropathy. There were signs of axonal neuropathy on both sural nerve and skeletal muscle biopsies. The clinical features, phenotype, microcephaly with agenesis of the corpus callosum and a posterior fossa cyst, associated with spinal atrophy indicated the diagnosis of Andermann's syndrome. CONCLUSIONS: This case is of interest in view of the exceptional rarity of Andermann's syndrome in our population.
MESH: Adolescence-; Age-of-Onset; Bladder,-Neurogenic; English-Abstract; Magnetic-Resonance-Imaging; Muscle-Hypotonia; Paresis-; Psychomotor-Disorders; Syndrome-
MESH: *Brain-Diseases-pathology; *Corpus-Callosum-abnormalities
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE
AN: 97383848
UD: 9711
MEDLINE EXPRESS (R) 1/97-9/97 8 of 30
TI: Patient with an Xp21 contiguous gene deletion syndrome in association with agenesis of the corpus callosum.
AU: Baranzini-SE; del-Rey-G; Nigro-N; Szijan-I; Chamoles-N; Cresto-JC
AD: Programa de Neurobiologia Molecular, Hospital de Clinicas Jose de San Martin, Facultad de Medicina, Universidad de Buenos Aires, Argentina.
SO: Am-J-Med-Genet. 1997 Jun 13; 70(3): 216-21
ISSN: 0148-7299
PY: 1997
LA: ENGLISH
CP: UNITED-STATES
AB: The so-called Xp21 contiguous deletion syndrome or complex glycerol kinase deficiency (GKD) usually presents with classical Duchenne muscular dystrophy (DMD) or a milder dystrophic myopathy, adrenal hypoplasia, and GKD. A number of syndromic and nonsyndromic cases of agenesis of the corpus callosum (ACC) also map to that location. To date, none of the cases of complex GKD have been associated with ACC. Here, we report on a patient with a complex phenotype as a result of the Xp21 contiguous deletion syndrome in association with ACC. Biochemical, cytogenetic, and molecular analyses were performed to detect and establish the size of the genomic deletion. It is at least 3 million base pairs in length; however, exact limits could not be determined in the present study. Nevertheless, we suggest the presence of a primary gene involved in the embryogenesis of the corpus callosum between Xp21.1 and Xp22.11.
MESH: Child-; Infant,-Newborn; Syndrome-
MESH: *Corpus-Callosum-abnormalities; *Gene-Deletion; *Glycerol-Kinase-genetics; *X-Chromosome
TG: Case-Report; Human; Male; Support,-Non-U.S.-Gov't
PT: JOURNAL-ARTICLE
RN: EC 2.7.1.30
NM: Glycerol-Kinase
AN: 97332422
UD: 9709
MEDLINE EXPRESS (R) 1/97-9/97 9 of 30
TI: Imaging findings in patients with clinical anophthalmos.
AU: Albernaz-VS; Castillo-M; Hudgins-PA; Mukherji-SK
AD: Department of Radiology, University of North Carolina at Chapel Hill, 27599, USA.
SO: AJNR-Am-J-Neuroradiol. 1997 Mar; 18(3): 555-61
ISSN: 0195-6108
PY: 1997
LA: ENGLISH
CP: UNITED-STATES
AB: PURPOSE: To review the intracranial and facial imaging features in children with congenital anophthalmos. METHODS: We retrospectively studied eight children with anophthalmos with respect to intraorbital, intracranial, and craniofacial anomalies (six had CT examinations, including the face, orbits, and brain, and four had MR imaging, including the orbits and brain). RESULTS: Three patients had primary bilateral anophthalmos on CT (n = 1) and MR (n = 3) studies. In these patients, MR images showed hypoplasia of the optic chiasm and posterior visual pathways (n = 3), agenesis (n = 1) or dysgenesis of the corpus callosum (n = 2), and a mass in the tuber cinereum region (n = 1). One patient had incontinentia pigmenti. Five patients had unilateral anophthalmos on CT (n = 5) and MR (n = 1) studies. One of these patients had a contralateral congenital cystic eye and one had contralateral severe microphthalmia and absent optic chiasm. All had craniofacial anomalies that consisted of midline facial clefts (n = 2) and concomitant hemifacial hypoplasia (n = 2). One had a craniosynostosis. All five had normal-appearing brains. CONCLUSION: Patients with bilateral anophthalmos represent a distinct group from those with unilateral anophthalmos. In our patients, bilateral anophthalmos was associated with absence of the optic chiasm, diminished size of the posterior optic pathways, and agenesis or dysgenesis of the corpus callosum. Patients with unilateral anophthalmos had severe craniofacial anomalies. Imaging of the face is helpful in patients with unilateral anophthalmos.
MESH: Brain-abnormalities; Brain-pathology; Child-; Corpus-Callosum-abnormalities; Corpus-Callosum-pathology; Dominance,-Cerebral-physiology; Image-Processing,-Computer-Assisted; Infant-; Infant,-Newborn; Optic-Chiasm-pathology; Optic-Nerve-abnormalities; Optic-Nerve-pathology; Visual-Pathways-pathology
MESH: *Anophthalmos-diagnosis; *Craniofacial-Abnormalities-diagnosis; *Magnetic-Resonance-Imaging; *Optic-Chiasm-abnormalities; *Tomography,-X-Ray-Computed; *Visual-Pathways-abnormalities
TG: Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 97245755
UD: 9709
MEDLINE EXPRESS (R) 1/97-9/97 10 of 30
TI: Acrocallosal syndrome in an Algerian boy born to consanguineous parents: review of the literature and further delineation of the syndrome.
AU: Courtens-W; Vamos-E; Christophe-C; Schinzel-A
AD: Laboratory of Cytogenetics, Brugmann University Hospital, Brussels, Belgium.
SO: Am-J-Med-Genet. 1997 Mar 3; 69(1): 17-22
ISSN: 0148-7299
PY: 1997
LA: ENGLISH
CP: UNITED-STATES
AB: We present a 17-month-old boy with the acrocallosal syndrome. He was born to consanguineous parents. Abnormal findings included agenesis of the corpus callosum, a ventricular septal defect (VSD), postaxial polydactyly of fingers, cleft soft palate, intestinal malrotation, large anterior fontanelle, prominent forehead, hypertelorism, epicanthic folds, short nose and mandible and preauricular skin tags, mixed hearing loss, laryngomalacia, and growth and severe motor and mental retardation. A review of previous reports on the acrocallosal syndrome shows considerable clinical variability; minimal diagnostic criteria are proposed. A developmental field defect with disturbance of midline development is suggested.
MESH: Abnormalities,-Multiple-pathology; Algeria-; Cleft-Palate; Consanguinity-; Corpus-Callosum-physiopathology; Heart-Septal-Defects,-Ventricular-physiopathology; Infant-; Magnetic-Resonance-Imaging; Polydactyly-; Syndrome-
MESH: *Abnormalities,-Multiple-physiopathology
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE
AN: 97219587
UD: 9708
MEDLINE EXPRESS (R) 1/97-9/97 11 of 30
TI: Agenesis of corpus callosum and anophthalmia in the asplenia syndrome. A recognisable association?
AU: Devriendt-K; Naulaers-G; Matthijs-G; Van-Houdt-K; Devlieger-H; Gewillig-M; Fryns-JP
AD: Center for Human Genetics, LEUVEN, Belgium.
SO: Ann-Genet. 1997; 40(1): 14-7
ISSN: 0003-3995
PY: 1997
LA: ENGLISH
CP: FRANCE
AB: We present a newborn infant with the asplenia syndrome and unique associated features of corpus callosum agenesis, anophthalmia and coloboma. Previous reports of eye abnormalities or corpus callosum agenesis in patients with asplenia suggest that this may represent a distinct clinically recognisable entity of abnormal lateralisation.
MESH: Coloboma-genetics; Infant,-Newborn; Laterality-genetics; Syndrome-
MESH: *Abnormalities,-Multiple-genetics; *Anophthalmos-genetics; *Corpus-Callosum-abnormalities; *Spleen-abnormalities
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE
AN: 97295203
UD: 9708
MEDLINE EXPRESS (R) 1/97-9/97 12 of 30
TI: What is the role of the corpus callosum in intermanual transfer of motor skills? A study of three cases with callosal pathology.
AU: Thut-G; Halsband-U; Regard-M; Mayer-E; Leenders-KL; Landis-T
AD: Neurology Department, University Hospital Zurich, Switzerland.
SO: Exp-Brain-Res. 1997 Feb; 113(2): 365-70
ISSN: 0014-4819
PY: 1997
LA: ENGLISH
CP: GERMANY
AB: Intermanual transfer for a skilled motor task was studied in two patients with total callosal agenesis, and one with an acquired partial callosal lesion and clinical evidence for disturbed transfer of motor signals. Patients had to draw meaningless figures with one upper extremity (original learning, OL) and to reproduce their mirror-reversals thereafter with the other side (transfer learning, TL). Both directions of intermanual transfer were tested in two conditions, that is, between either proximal or distal muscle groups. Transfer was evaluated by comparing OL and TL performance at the same effector. The main variable of interest was movement time during the first eight trials of OL and TL. All three patients displayed a significant benefit for transfer from the dominant to the non-dominant hand but not vice versa during proximal motor activity. When compared with the performance of healthy subjects tested in almost identical conditions in a previously reported study, the proximal transfer behavior was found to be similar for all patients and the normal group. Although patients exhibited no significant benefit for distal transfer, their non-dominant-to-dominant distal transfer was above the normal range. The similar transfer pattern of the patients and healthy subjects when using proximal musculature suggests that proximal transfer may be subserved by identical extracallosal pathways, most probably by the ipsilaterally descending motor systems. Since non-dominant-to-dominant distal transfer was found to be disadvantageous in healthy subjects, the patients' relative superiority in this condition may reflect missing callosal influences of an inhibitory nature.
MESH: Adult-; Middle-Age
MESH: *Corpus-Callosum-physiology; *Motor-Activity-physiology; *Movement-Disorders-physiopathology
TG: Human; Male; Support,-Non-U.S.-Gov't
PT: JOURNAL-ARTICLE
AN: 97217762
UD: 9708
MEDLINE EXPRESS (R) 1/97-9/97 13 of 30
TI: Familial progressive sensorimotor neuropathy with agenesis of the corpus callosum (Andermann syndrome): a clinical, neuroradiological and histopathological study.
AU: Deleu-D; Bamanikar-SA; Muirhead-D; Louon-A
AD: Department of Clinical Pharmacology and Neurology, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman.
SO: Eur-Neurol. 1997; 37(2): 104-9
ISSN: 0014-3022
PY: 1997
LA: ENGLISH
CP: SWITZERLAND
AB: Three siblings from consanguineous parents, originating from Tanzania, presented with symptoms of complete or partial agenesis of the corpus callosum. Two males had in addition a sensorimotor neuropathy, moderate mental retardation and skeletal dysmorphism (Andermann syndrome). A study of sural nerve biopsies revealed thickening of the perineurium and reduction in the number of large myelinated fibres with axonal degeneration. Muscle biopsies showed neurogenic atrophy. The Andermann syndrome is autosomal recessive and almost exclusively confined to the region of Charlevoix and Saguenay-Lac-St-Jean (Quebec, Canada). Moreover in families with the Andermann syndrome, no siblings with only agenesis of the corpus callosum have been described.
MESH: Adolescence-; Axons-pathology; Biopsy-; Brain-pathology; Child-; Chromosome-Abnormalities-genetics; Consanguinity-; Corpus-Callosum-pathology; Genes,-Recessive-genetics; Mental-Retardation-diagnosis; Mental-Retardation-genetics; Mental-Retardation-pathology; Nerve-Fibers,-Myelinated-pathology; Neuropathies,-Hereditary-Motor-and-Sensory-diagnosis; Neuropathies,-Hereditary-Motor-and-Sensory-pathology; Sural-Nerve-pathology; Syndrome-; Tanzania-; Tomography,-X-Ray-Computed
MESH: *Corpus-Callosum-abnormalities; *Neuropathies,-Hereditary-Motor-and-Sensory-genetics
TG: Case-Report; Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 97211068
UD: 9708
MEDLINE EXPRESS (R) 1/97-9/97 14 of 30
TI: Agenesis of the corpus callosum [letter]
AU: Catala-M; Lesourd-S
SO: J-Neurosurg. 1997 May; 86(5): 914
ISSN: 0022-3085
PY: 1997
LA: ENGLISH
CP: UNITED-STATES
MESH: Abnormalities-genetics; Triplets-
MESH: *Corpus-Callosum-abnormalities
TG: Human
PT: LETTER
AN: 97272070
UD: 9707
SB: AIM
MEDLINE EXPRESS (R) 1/97-9/97 15 of 30
TI: Agenesis of the corpus callosum in a mother and son.
AU: Inbar-D; Halpern-GJ; Weitz-R; Sadeh-M; Shohat-M
AD: Child Development Unit, Schneider Children's Medical Center of Israel, Petah Tiqva.
SO: Am-J-Med-Genet. 1997 Mar 17; 69(2): 152-4
ISSN: 0148-7299
PY: 1997
LA: ENGLISH
CP: UNITED-STATES
AB: Most reported familial cases of agenesis of the corpus callosum have followed either an autosomal recessive or an X-linked recessive pattern of inheritance. To the best of our knowledge, there is only one previous report of a family showing clear-cut autosomal dominant inheritance. We present the second such family, among whom a mother and her son had moderately severe coordination problems and low-normal intelligence. We suggest that agenesis of the corpus callosum, when transmitted as an autosomal dominant trait, is clinically characterized by a relatively milder phenotype than that occurring when inheritance is either autosomal or X-linked recessive and may be more common than has been thought.
MESH: Adult-; Child,-Preschool; Magnetic-Resonance-Imaging; Phenotype-
MESH: *Corpus-Callosum-abnormalities; *Genes,-Dominant
TG: Case-Report; Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 97209251
UD: 9707
MEDLINE EXPRESS (R) 1/97-9/97 16 of 30
TI: Retarded formation of the hippocampal commissure in embryos from mouse strains lacking a corpus callosum.
AU: Livy-DJ; Wahlsten-D
AD: Department of Biological Sciences, University of Alberta, Edmonton, Canada.
SO: Hippocampus. 1997; 7(1): 2-14
ISSN: 1050-9631
PY: 1997
LA: ENGLISH
CP: UNITED-STATES
AB: A precise description of the timing and route traveled by axons traversing the telencephalic midline through the ventral hippocampal commissure (HC) is essential for understanding the role it plays in the formation of the corpus callosum (CC). A normal baseline of HC development was described in B6D2F2 hybrid mice and then compared with two inbred strains of mice displaying callosal agenesis, BALB/cWah1 (50% CC defect) and 129/J (70% CC defect), their F2 hybrid (C129F2-33% CC defect), and a recombinant inbred strain (RI-1-100% CC defect) derived from pairs of C129F2 mice. Embryos weighing from 0.25 g to 0.70 g (E14.5-E17) were collected and fixed by perfusion. Axon tracts were labeled using crystals of the lipophilic dyes DiI and DiA inserted into the hippocampal fimbria and cerebral cortex. HC axons in B6D2F2 mice first cross the midline at about 0.350 g body weight (E14.8) by traveling over the dorsal septum and along the pia membrane lining the longitudinal fissure. Earlier crossing was prevented by the presence of a deep cleft formed by the longitudinal fissure extending down into the septal region. Subsequent axons fasciculated along existing axons, gradually building the dorsoventral height of the HC to about 200 microns by 0.600 g. The earliest callosal axons from frontal cortex crossed the midline at 0.620 g and were clearly seen fasciculating along and between existing hippocampal axons at the dorsal surface of the HC as they crossed. In the acallosal strains, HC formation was delayed by the continued presence of the cleft deep in the septal region. This delay in time of crossing was correlated with later CC defect expression. Initial HC crossing occurred at about 0.470 g (E16.25) in BALB mice and about 0.520 g (E16.5) in 129 mice. In the RI-1 embryos, first HC crossing was estimated at about 0.750 g (E17.5), although several older embryos showed no crossing. These results show the importance of the HC for successful CC formation and suggest that absent CC arises as a consequence of a developmental defect which affects the formation of the hippocampal commissure prior to arrival of CC axons at midplane.
MESH: Axons-physiology; Body-Weight; Crosses,-Genetic; Fetal-Development; Gestational-Age; Mice-; Mice,-Inbred-BALB-C; Mice,-Inbred-DBA; Mice,-Inbred-Strains; Mice,-Neurologic-Mutants
MESH: *Corpus-Callosum-abnormalities; *Corpus-Callosum-embryology; *Hippocampus-abnormalities; *Hippocampus-embryology
TG: Animal; Female; Male; Support,-Non-U.S.-Gov't
PT: JOURNAL-ARTICLE
AN: 97205940
UD: 9707
MEDLINE EXPRESS (R) 1/97-9/97 17 of 30
TI: Agenesis of the corpus callosum in Turner syndrome with ring X.
AU: Abd-SE; Wilson-L; Howlin-P; Patton-MA; Wintgens-AM; Wilson-R
AD: St George's Hospital Medical School, London, UK.
SO: Dev-Med-Child-Neurol. 1997 Feb; 39(2): 119-24
ISSN: 0012-1622
PY: 1997
LA: ENGLISH
CP: ENGLAND
AB: An 8-year-old girl with Turner syndrome and 45,X/46,X,r(X) mosaicism was found to have agenesis of the corpus callosum and various other characteristics including 'kabuki makeup' facial features and mild learning disability. Only two other cases of Turner syndrome associated with agenesis of the corpus callosum have been reported, both in patients with a 45,X karyotype. In both of those patients the constellation of signs differed from those of the present patient in a number of ways. It remains to be confirmed whether there is a higher incidence of CNS malformation in girls who have Turner syndrome with a ring X than has been reported for girls with Turner syndrome in general.
MESH: Child-; Chromosome-Banding; Corpus-Callosum-pathology; Magnetic-Resonance-Imaging; Turner's-Syndrome-pathology
MESH: *Corpus-Callosum-abnormalities; *Turner's-Syndrome-genetics; *X-Chromosome-genetics
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE
AN: 97216137
UD: 9706
MEDLINE EXPRESS (R) 1/97-9/97 18 of 30
TI: Spatial stimulus-response compatibility in callosotomy patients and subjects with callosal agenesis.
AU: Aglioti-S; Tassinari-G; Berlucchi-G
AD: Dipartimento di Scienze Neurologiche e della Visione, Sezione di Fisiologia umana, Verona, Italy.
SO: Neurosci-Biobehav-Rev. 1996 Winter; 20(4): 623-9
ISSN: 0149-7634
PY: 1996
LA: ENGLISH
CP: UNITED-STATES
AB: Subjects with partial or complete defects of the corpus callosum, either congenital or acquired, performed a choice reaction time (RT) task involving a right or left key-press response to a light presented at random in the right or left hemifield. Like normal subjects, all of them exhibited two additive effects typical of these tasks: the spatial stimulus-response compatibility effect (faster RT for stimuli and responses matched for side), and the hand placement effect (longer RT for responses performed with crossed hands). Two subjects with a complete callosal defect, one acquired and the other congenital, showed a third effect, not present in normal subjects, consisting of a marked advantage for RT of responses with hand anatomically ipsilateral to the stimulus, independent of both stimulus-response compatibility and hand placement. These findings can be interpreted according to a hierarchical model of information processing assuming that, in the absence of the corpus callosum, the matching of the mental codes for the stimulus and response sets takes place solely in the hemisphere receiving the stimulus, with a subsequent rapid-intrahemispheric or slow-interhemispheric transmission of the response command to the appropriate motor centers.
MESH: Adult-; Analysis-of-Variance; Corpus-Callosum-physiopathology; Corpus-Callosum-surgery; Photic-Stimulation; Reaction-Time-physiology; Task-Performance-and-Analysis
MESH: *Corpus-Callosum-abnormalities; *Space-Perception-physiology
TG: Human; Male; Support,-Non-U.S.-Gov't
PT: JOURNAL-ARTICLE
AN: 97147296
UD: 9706
MEDLINE EXPRESS (R) 1/97-9/97 19 of 30
TI: Agenesis of the corpus callosum associated with paroxysmal hypothermia: Shapiro's syndrome.
AU: Segeren-CM; Polderman-KH; Lips-P
AD: Department of Haematology, Daniel den Hoed Kliniek, Rotterdam, Netherlands.
SO: Neth-J-Med. 1997 Jan; 50(1): 29-35
ISSN: 0300-2977
PY: 1997
LA: ENGLISH
CP: NETHERLANDS
AB: Spontaneous recurrent hypothermia and hyperhidrosis associated with agenesis of the corpus callosum was first described by Shapiro and Plum in 1967. Since then, several cases with similar symptoms (now known as Shapiro's syndrome or spontaneous periodic hypothermia) have been described. We report another case of this syndrome in a 21-year-old-man, and discuss possible pathogenetic mechanisms and therapeutic approaches.
MESH: Adult-; Body-Temperature; Hyperhidrosis-diagnosis; Hyperhidrosis-therapy; Hypothermia-diagnosis; Hypothermia-therapy; Magnetic-Resonance-Imaging; Recurrence-; Syndrome-
MESH: *Corpus-Callosum-abnormalities; *Hyperhidrosis-complications; *Hypothermia-complications
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE
AN: 97190013
UD: 9705
MEDLINE EXPRESS (R) 1/97-9/97 20 of 30
TI: Aicardi syndrome: a morphologic description with particular reference to intracytoplasmic inclusions in cortical astrocytes.
AU: Buchino-JJ; Nicol-KK; Parker-JC Jr
AD: Department of Pediatrics and Pathology, School of Medicine, University of Louisville, Kentucky, USA.
SO: Pediatr-Pathol-Lab-Med. 1996 Mar-Apr; 16(2): 285-91
ISSN: 1077-1042
PY: 1996
LA: ENGLISH
CP: UNITED-STATES
AB: Aicardi syndrome is characterized by agenesis of the corpus callosum, infantile spasms, and ocular anomalies. Very few morphologic descriptions have been made of the central nervous system of children with this syndrome. We performed a postmortem examination of the brain of a 13-year-old girl with clinically well-documented Aicardi syndrome. Gross examination revealed a small brain (745 g) with the right cerebral and cerebellar hemispheres smaller than the left. There was agenesis of the corpus callosum, and ectopic gray matter was scattered throughout the cerebral hemispheres. Both choroid plexus and arachnoid cysts were present. Microscopic examination revealed indistinct cortical layering and multiple foci of ectopic gray matter. The cerebellar sections were altered by focal atrophy with gliosis and Purkinje cell dropout. Multiple sections of cerebrum contained astrocytes with coarse, paranuclear, eosinophilic inclusions. Electron microscopy, immunohistochemistry, and special stains further defined these inclusions, which we speculate represent a degenerative process.
MESH: Adolescence-; Corpus-Callosum-ultrastructure; Infant,-Newborn; Spasms,-Infantile-etiology; Syndrome-
MESH: *Astrocytes-pathology; *Cerebral-Cortex-pathology; *Corpus-Callosum-abnormalities; *Eye-Abnormalities-pathology; *Inclusion-Bodies-pathology; *Spasms,-Infantile-pathology
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE
AN: 97178441
UD: 9705
MEDLINE EXPRESS (R) 1/97-9/97 21 of 30
TI: Agenesis of corpus callosum, hypertrophic pyloric stenosis and Hirschsprung disease: coincidence or common etiology?
AU: Sayed-M; al-Alaiyan-S
AD: Department of Pediatrics, King Faisal Specialist Hospital and Research Center Riyadh, Saudi Arabia.
SO: Neuropediatrics. 1996 Aug; 27(4): 204-6
ISSN: 0174-304X
PY: 1996
LA: ENGLISH
CP: GERMANY
AB: This article reports a full-term infant with Hirschsprung disease (HD) who was diagnosed to have hypertrophic pyloric stenosis (HPS) and agenesis of corpus callosum (ACC). Pyloric stenosis is known to be associated with HD. To our knowledge, the combination of Hirschsprung disease, hypertrophic pyloric stenosis and agenesis of corpus callosum has not been reported previously. We believe these three conditions are due to an underlying pathophysiologic mechanism.
MESH: Abnormalities,-Multiple-physiopathology; Hirschsprung-Disease-complications; Hypertrophy-complications; Infant,-Newborn; Pyloric-Stenosis-complications
MESH: *Abnormalities,-Multiple; *Corpus-Callosum-abnormalities; *Hirschsprung-Disease; *Pyloric-Stenosis
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE
AN: 97047451
UD: 9705
MEDLINE EXPRESS (R) 1/97-9/97 22 of 30
TI: Agenesis of the corpus callosum in Schinzel-Giedion syndrome associated with 47,XXY karyotype.
AU: Ozkinay-FF; Akisu-M; Kultursay-N; Oral-R; Tansug-N; Sapmaz-G
AD: Ege University Faculty of Medicine, Department of Pediatrics, Izmir, Turkey.
SO: Clin-Genet. 1996 Sep; 50(3): 145-8
ISSN: 0009-9163
PY: 1996
LA: ENGLISH
CP: DENMARK
AB: The Schinzel-Giedion syndrome is a rare autosomal recessive condition with typical facial features, skeletal manifestations and congenital hydronephrosis and/or hydroureter. We report a male infant with Schinzel-Giedion syndrome, also showing the karyotypic abnormality 47,XXY. Agenesis of the corpus callosum and laryngeal stenosis were determined at autopsy. Besides typical Schinzel-Giedion syndrome, our propositus was found to be affected by Klinefelter syndrome. This represents a fortuitous anomaly, which is probably of no importance in the phenotype of the patient.
MESH: Abnormalities,-Multiple-pathology; Abnormalities,-Multiple-physiopathology; Corpus-Callosum-pathology; Fatal-Outcome; Infant,-Newborn; Karyotyping-; Laryngostenosis-pathology; Magnetic-Resonance-Imaging; Syndrome-
MESH: *Abnormalities,-Multiple-genetics; *Chromosome-Abnormalities; *Corpus-Callosum-abnormalities
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE
AN: 97101595
UD: 9705
MEDLINE EXPRESS (R) 1/97-9/97 23 of 30
TI: Developmental stutter in a patient with callosal agenesis disappears during steroid therapy.
AU: Nass-RD
AD: Department of Neurology, New York University Medical Center, New York 10016, USA.
SO: Pediatr-Neurol. 1996 Sep; 15(2): 166-8
ISSN: 0887-8994
PY: 1996
LA: ENGLISH
CP: UNITED-STATES
AB: A 10-year-old left-handed girl with a developmental stutter and agenesis of the corpus callosum with associated hydrocephalus ceased stuttering immediately upon initiation of steroid therapy for colitis. Steroid taper resulted in a recurrence of the stutter and resumption for treatment of recrudescent colitis caused its disappearance again. Baseline agenesis of the corpus callosum with hydrocephalus and the patient's course in the face of the known effects of steroids on white matter lend support to the hypothesis that stuttering reflects anomalous dominance and/or atypical interhemispheric connectivity, as evidenced by the fact that presumed alterations of white matter tracts affected speech rhythms/stuttering.
MESH: Child-; Corpus-Callosum-pathology; Corpus-Callosum-physiopathology; Dominance,-Cerebral-physiology; Dose-Response-Relationship,-Drug; Drug-Administration-Schedule; Hydrocephalus-drug-therapy; Hydrocephalus-physiopathology; Magnetic-Resonance-Imaging; Stuttering-physiopathology
MESH: *Corpus-Callosum-abnormalities; *Dominance,-Cerebral-drug-effects; *Prednisone-administration-and-dosage; *Stuttering-drug-therapy
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE
RN: 53-03-2
NM: Prednisone
AN: 97042856
UD: 9705
MEDLINE EXPRESS (R) 1/97-9/97 24 of 30
TI: [Aicardi's syndrome: agenesis of the corpus callosum, infantile flexor spasms and macular dystrophy]
TO: Sindrom Aikardi: ageneziia mozolistogo tela, fleksornye infantil'nye spazmy, makulodistrofiia.
AU: Badalian-LO; Medvedev-MI; Berestov-AI; Kharlamov-DA; Lysov-VL
SO: Zh-Nevropatol-Psikhiatr-Im-S-S-Korsakova. 1996; 96(5): 87-90
ISSN: 0044-4588
PY: 1996
LA: RUSSIAN; NON-ENGLISH
CP: RUSSIA
MESH: Abnormalities,-Multiple-genetics; Child,-Preschool; Infant-; Linkage-Genetics; Macular-Degeneration-genetics; Spasms,-Infantile-genetics; Syndrome-; X-Chromosome
MESH: *Abnormalities,-Multiple-diagnosis; *Corpus-Callosum-abnormalities; *Macular-Degeneration-diagnosis; *Spasms,-Infantile-diagnosis
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES
AN: 97097351
UD: 9704
MEDLINE EXPRESS (R) 1/97-9/97 25 of 30
TI: Proton magnetic resonance spectroscopy of a gray matter heterotopia.
AU: Marsh-L; Lim-KO; Sullivan-EV; Lane-B; Spielman-D
AD: Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, CA 94305-5546, USA.
SO: Neurology. 1996 Dec; 47(6): 1571-4
ISSN: 0028-3878
PY: 1996
LA: ENGLISH
CP: UNITED-STATES
AB: We used proton magnetic resonance spectroscopy to examine resonances representing metabolites containing N-acetyl (NA) groups (predominantly N-acetyl aspartate), choline, and creatine within a large left-hemispheric gray matter heterotopia (GMH) in a 35-year-old man with corpus callosum agenesis. In contrast to normal brain tissue, including gray matter regions, heterotopic gray matter was characterized by relatively increased choline and creatine resonances and a normal NA signal. These data suggest increased cellular activity or persistent immature neuronal tissue in GMH relative to unaffected tissue.
MESH: Adult-; Corpus-Callosum-abnormalities; Nuclear-Magnetic-Resonance; Protons-
MESH: *Brain-Diseases-metabolism; *Corpus-Callosum-metabolism
TG: Case-Report; Human; Male; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-Non-P.H.S.; Support,-U.S.-Gov't,-P.H.S.
PT: JOURNAL-ARTICLE
CN: MH30854MHNIMH; AG11427AGNIA; RR09784RRNCRR
RN: 0
NM: Protons
AN: 97120077
UD: 9704
SB: AIM
MEDLINE EXPRESS (R) 1/97-9/97 26 of 30
TI: A mother and daughter with agenesis of the corpus callosum.
AU: Fuchigami-T; Mazaki-R; Nishimura-A; Noguchi-Y; Fuchigami-S; Fujita-Y; Okubo-O; Harada-K
AD: Department of Pediatrics, Nihon University School of Medicine, Tokyo, Japan.
SO: Acta-Paediatr-Jpn. 1996 Feb; 38(1): 52-6
ISSN: 0374-5600
PY: 1996
LA: ENGLISH
CP: AUSTRALIA
AB: A mother and daughter with agenesis of the corpus callosum are reported. There have only been 11 prior case reports of the familial occurrence of agenesis of the corpus callosum in the absence of extracranial malformations. Most of these reports have described familial occurrence among siblings. The present communication is only the second description of a parent and child with agenesis of the corpus callosum. A review of the published cases of familial syndrome unrelated agenesis of the corpus callosum indicates that both mental, developmental and neurologic disorders in cases involving parent and child are milder than those in cases involving siblings. Of additional interest, electroencephalography performed in this patient during sleep, frequently revealed bilateral asynchronous sleep spindles, supporting the hypothesis of previous investigators that the synchronicity of sleep spindles requires intact intercerebral commissures.
MESH: Abnormalities-diagnosis; Abnormalities-physiopathology; Child,-Preschool; Corpus-Callosum-pathology; Corpus-Callosum-physiopathology; Electroencephalography-; Heterozygote-Detection; Magnetic-Resonance-Imaging; Pedigree-
MESH: *Abnormalities-genetics; *Corpus-Callosum-abnormalities; *Mothers-
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES
AN: 97104692
UD: 9703
MEDLINE EXPRESS (R) 1/97-9/97 27 of 30
TI: Agenesis of corpus callosum.
AU: Jaynes-M; Schochet-SS Jr
AD: Department of Neurology, Robert C. Byrd Health Science Center, Morgantown, WV 26506, USA.
SO: Semin-Pediatr-Neurol. 1996 Sep; 3(3): 231-5
ISSN: 1071-9091
PY: 1996
LA: ENGLISH
CP: UNITED-STATES
AB: This 20-month-old girl was found to have an abdominal mass. She was known to have an 8p + karyotype with multiple congenital anomalies including the Pierre Robin sequence. Computed tomography disclosed agenesis of the corpus callosum. The child died following resection of a nephroblastoma. The neuropathological findings are illustrated and discussed.
MESH: Infant-
MESH: *Cerebral-Cortex-pathology; *Corpus-Callosum-pathology; *Nephroblastoma-pathology
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE
AN: 97037518
UD: 9703
MEDLINE EXPRESS (R) 1/97-9/97 28 of 30
TI: [Aicardi syndrome and choroid plexus papilloma: a rare association. Case report]
TO: Sindrome de Aicardi e papiloma do plexo coroide: uma associacao rara relato de caso.
AU: Aguiar-MD; Cavalcanti-M; Barbosa-H; Vilela-SL; Mendonca-JL; Horta-E
AD: Neuropediatra do Hospital de Base do Distrito Federal, Brasil.
SO: Arq-Neuropsiquiatr. 1996 Jun; 54(2): 313-7
ISSN: 0004-282X
PY: 1996
LA: PORTUGUESE; NON-ENGLISH
CP: BRAZIL
AB: The authors report a case of a 5 months old female child with clinical features of Aicardi syndrome: agenesis of the corpus callosum, occular abnormalities ("chorioretinal lacunae" and microphthalmus), infantile spasms, mental retardation, vertebral malformations and thoracic deformity. The pacient was submitted to complementary examinations that confirmed the diagnosis. The neuroradiologic images (MRI) showed besides corpus callosum agenesis a tumor located at the left ventricular atrium (choroid plexus papilloma). This association is a rare occurrence and the present case is the seventh described in literature. Furthermore, we suggest that the choroid plexus pappilloma could be a characteristic tumor of the Aicardi syndrome.
MESH: English-Abstract; Infant-; Nuclear-Magnetic-Resonance; Syndrome-; Tomography,-X-Ray-Computed
MESH: *Choroid-Plexus-Neoplasms-diagnosis; *Corpus-Callosum-abnormalities; *Eye-Abnormalities-diagnosis; *Glioma-diagnosis; *Mental-Retardation-diagnosis; *Spasms,-Infantile-diagnosis
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES
AN: 97104626
UD: 9703
MEDLINE EXPRESS (R) 1/97-9/97 29 of 30
TI: Interhemispheric depth judgement.
AU: Rivest-J; Cavanagh-P; Lassonde-M
AD: Psychology Department, Glendon College, Toronto, Ontario, Canada.
SO: Neuropsychologia. 1994 Jan; 32(1): 69-76
ISSN: 0028-3932
PY: 1994
LA: ENGLISH
CP: ENGLAND
AB: Interhemispheric depth comparisons were studied by requiring subjects to align in depth two textured plates, one presented to the left hemifield and the other to the right. Callosal agenesis subjects and neurologically-normal control subjects adjusted the plates so that they appeared to be at the same distance. Subjects viewed the plates monocularly or binocularly while keeping their head still, moving it side-to-side or moving it up and down. Subjects fixated a target located between the two plates while performing the task. For all subjects, the results showed that the deviations from veridical settings were significantly smaller for the binocular than for the monocular viewing conditions. Moreover, there were no significant differences among the three binocular viewing conditions (horizontal, vertical or no head movement), indicating that neither vertical nor horizontal motion parallax improves the precision of depth judgement when binocular disparity is available. These results further suggest that the precision of interhemispheric comparison for binocular depth is not affected by the absence of the corpus callosum. Looking at the plates monocularly, the control subjects judge the relative depth between the plates more precisely when they moved their head than when they kept it still. These results show that motion parallax is a useful depth cue when relative motion is extracted from different hemifields. Unlike the control subjects, the callosal agenesis subjects did not judge the relative depth between the plates more precisely when they moved their head than when they kept it still. These results show that interhemispheric comparison of depth using relative motion is not possible without the corpus callosum.
MESH: Adult-; Brain-Damage,-Chronic-genetics; Brain-Damage,-Chronic-physiopathology; Corpus-Callosum-physiopathology; Discrimination-Learning-physiology; Head-Movements-physiology; Orientation-physiology; Vision-Disparity-physiology; Vision,-Binocular-physiology; Vision,-Monocular-physiology
MESH: *Corpus-Callosum-abnormalities; *Depth-Perception-physiology; *Dominance,-Cerebral-physiology; *Pattern-Recognition,-Visual-physiology
TG: Female; Human; Male; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.
PT: JOURNAL-ARTICLE
CN: EY09258EYNEI
AN: 96415188
UD: 9702
MEDLINE EXPRESS (R) 1/97-9/97 30 of 30
TI: Nager acrofacial dysostosis. An adult male with severe neurological deficit.
AU: Fryns-JP; Bonhomme-A; Van-den-Berghe-H
AD: Center for Human Genetics, University of Leuven, Belgium.
SO: Genet-Couns. 1996; 7(2): 147-51
ISSN: 1015-8146
PY: 1996
LA: ENGLISH
CP: SWITZERLAND
AB: In this report we describe a 50-year old male with Nager Acrofacial Dysostosis. In addition to the typical maxillofacial dysostosis and the bilateral thumb hypoplasia, he presented a severe neurological syndrome with spastic diplegia, hemiparesis of the left arm, and agenesis of the corpus callosum on CT-scan. He died at the age of 50 years from congestive heart failure due to a complete AV-block.
MESH: Adult-; Corpus-Callosum-abnormalities; Dysostoses-genetics; Foot-Deformities,-Congenital; Thumb-abnormalities
MESH: *Dysostoses-diagnosis; *Face-abnormalities; *Maxilla-abnormalities
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE
AN: 96427833
UD: 9702
web contact: pietsch@indiana.edu