Atrioventricular septal defect and type A postaxial polydactyly without other major associated anomalies: a specific association.
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.
Levin
S E
SE
Department of Pediatrics, Johannesburg Hospital, University of the Witwatersrand, South Africa.
Dansky
R
R
Milner
S
S
Benatar
A
A
Govendrageloo
K
K
du Plessis
J
J
D002648:Child; D004200:Diseases in Twins / Q000235:genetics; D004613:Ellis-Van Creveld Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D005260:Female; D006343:Heart Septal Defects / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D017689:Polydactyly / Q000175:diagnosis / Q000235:genetics*