web contact: pietsch@indiana.edu
Search conducted at Indiana University, Bloomington, Indiana
The following MEDLINE items were compiled in response to a Shufflebrain reader's inquiry about agenesis of the corpus callosum and are presented with the generous co-operation and kind permission of SilverPlatter1 of 5
TI: The gene for the Ellis-van Creveld syndrome is located on chromosome 4p16.
AU: Polymeropoulos-MH; Ide-SE; Wright-M; Goodship-J; Weissenbach-J; Pyeritz-RE; Da-Silva-EO; Ortiz-De-Luna-RI; Francomano-CA
AD: Gene Mapping Unit, Laboratory of Genetic Disease Research, National Center for Human Genome Research, National Institutes of Health, Building 49, Bethesda, Maryland, 20892, USA.
SO: Genomics. 1996 Jul 1; 35(1): 1-5
ISSN: 0888-7543
PY: 1996
LA: ENGLISH
CP: UNITED-STATES
AB: Ellis-van Creveld syndrome (EVC) is an autosomal recessive disorder characterized by disproportionate dwarfism, polydactyly, and congenital heart disease. This rare disorder is found with increased frequency among the Old Order Amish community in Lancaster County, Pennsylvania. We have used linkage analysis to localize the gene responsible for the EVC phenotype in nine interrelated Amish pedigrees and three unrelated families from Mexico, Ecuador, and Brazil. We now report the linkage for the Ellis-van Creveld syndrome gene to markers on the distal short arm of human chromosome 4, with Zmax = 6.91 at theta = 0.02 for marker HOX7, in a region proximal to the FGFR3 gene responsible for the achondroplasia phenotype.
MESH: Brazil-epidemiology; Chromosome-Mapping; Consanguinity-; Ecuador-epidemiology; Ellis-Van-Creveld-Syndrome-ethnology; Genes,-Recessive; Haplotypes-genetics; Linkage-Genetics; Mexico-epidemiology; Pedigree-; Pennsylvania-epidemiology
MESH: *Chromosomes,-Human,-Pair-4-genetics; *Ellis-Van-Creveld-Syndrome-genetics; *Ethnic-Groups-genetics
TG: Human; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.
PT: JOURNAL-ARTICLE
CN: PO1HG00373HGNCHGR; HL35877HLNHLBI; FDR692
AN: 96299733
UD: 9612
2 of 5
TI: Short rib-dysplasia group (with/without polydactyly): report of a patient suggesting the existence of a continuous spectrum.
AU: Franceschini-P; Guala-A; Vardeu-MP; Signorile-F; Franceschini-D; Bolgiani-MP
AD: Istituto di Discipline Pediatriche, Servizio di Genetica Clinica, Chivasso, Italy.
SO: Am-J-Med-Genet. 1995 Nov 20; 59(3): 359-64
ISSN: 0148-7299
PY: 1995
LA: ENGLISH
CP: UNITED-STATES
AB: We report on a patient with manifestations typical of Mohr syndrome and of the short rib (polydactyly) syndromes (SR(P)S) Majewski, Verma-Naumoff, Beemer, and Jeune. It seems possible that the different types of SR(P) syndromes, rather than being distinct conditions, are part of a large disease spectrum. The frequent overlap between orofaciodigital syndromes and SR(P) syndromes may be interpreted as the outcome of deletions of different size within the same chromosome region.
MESH: Abnormalities,-Multiple-pathology; Ellis-Van-Creveld-Syndrome-classification; Ellis-Van-Creveld-Syndrome-pathology; Fatal-Outcome; Infant,-Newborn; Orofaciodigital-Syndromes-classification; Sequence-Deletion; Short-Rib-Polydactyly-Syndrome-classification; Syndrome-
MESH: *Abnormalities,-Multiple-classification; *Chromosomes,-Human,-Pair-17-genetics; *Orofaciodigital-Syndromes-pathology; *Short-Rib-Polydactyly-Syndrome-pathology
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE
AN: 96162321
UD: 9606
3 of 5
TI: Atrioventricular septal defect and type A postaxial polydactyly without other major associated anomalies: a specific association.
AU: Levin-SE; Dansky-R; Milner-S; Benatar-A; Govendrageloo-K; du-Plessis-J
AD: Department of Pediatrics, Johannesburg Hospital, University of the Witwatersrand, South Africa.
SO: Pediatr-Cardiol. 1995 Sep-Oct; 16(5): 242-6
ISSN: 0172-0643
PY: 1995
LA: ENGLISH
CP: UNITED-STATES
AB: Four children are described, (three black and one white, two boys and two girls) with type A postaxial polydactyly. All four of them, in addition, had either a partial or complete atrioventricular septal defect (AVSD). None of these children had associated major malformations. Minor anomalies were observed (e.g., two patients with hypersegmentation of the sternal segments, one patient with undescended testes, one patient with hypoplastic lumbar vertebra, and one patient with a degree of craniofacial abnormality). Chromosome analysis was carried out for three of the four patients, and was normal in all of them. It is suggested that there is a specific association between type A postaxial polydactyly and the AVSD found in each of these patients. This picture does not conform to, but bears some resemblance to, the Ellis-van Creveld syndrome.
MESH: Child-; Diseases-in-Twins-genetics; Ellis-Van-Creveld-Syndrome-diagnosis; Ellis-Van-Creveld-Syndrome-surgery; Heart-Septal-Defects-diagnosis; Heart-Septal-Defects-surgery; Infant-; Karyotyping-; Polydactyly-diagnosis
MESH: *Ellis-Van-Creveld-Syndrome-genetics; *Heart-Septal-Defects-genetics; *Polydactyly-genetics
TG: Case-Report; Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 96030205
UD: 9603
4 of 5
TI: [The Ellis-van Creveld syndrome. A case report]
TO: Sindrome di Ellis-van Creveld. Descrizione di un caso.
AU: Gambardella-A; Cusati-B; Rotondo-A
AD: Facolta di Medicina e Chirurgia, Istituto di Scienze Radiologiche, Universita degli Studie Federico II, Napoli.
SO: Radiol-Med-Torino. 1995 Sep; 90(3): 311-3
ISSN: 0033-8362
PY: 1995
LA: ITALIAN; NON-ENGLISH
CP: ITALY
MESH: Bone-and-Bones-radiography; Child-
MESH: *Ellis-Van-Creveld-Syndrome-radiography
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES
AN: 96096838
UD: 9603
5 of 5
TI: [Value of echocardiography in Ellis-Van Creveld syndrome (letter)]
TO: Interet de l'echographie cardiaque dans le syndrome d'Ellis et Van Creveld.
AU: Bouguerra-L; Turki-R; Hichri-A
SO: Arch-Pediatr. 1995 Oct; 2(10): 1022
ISSN: 0929-693X
PY: 1995
LA: FRENCH; NON-ENGLISH
CP: FRANCE
MESH: Echocardiography-; Infant-
MESH: *Ellis-Van-Creveld-Syndrome-ultrasonography
TG: Case-Report; Female; Human
PT: LETTER
AN: 96099592
UD: 9603