CLEFT-LIP AND CONE-ROD DYSTROPHY IN A CONSANGUINEOUS SIBSHIP

Authors
AUSEMS MGEM WITTEBOLPOST D HENNEKAM RCM
Citation
Mgem. Ausems et al., CLEFT-LIP AND CONE-ROD DYSTROPHY IN A CONSANGUINEOUS SIBSHIP, Clinical dysmorphology, 5(4), 1996, pp. 307-311
Citations number
15
Categorie Soggetti
Genetics & Heredity
Journal title
Clinical dysmorphology → ACNP
ISSN journal
09628827
Volume
5
Issue
4
Year of publication
1996
Pages
307 - 311
Database
ISI
SICI code
0962-8827(1996)5:4<307:CACDIA>2.0.ZU;2-0
Abstract
Three siblings from a consanguineous marriage were found to have a cle ft lip. Two of them developed a progressive retinopathy which was iden tified as a cone-rod dystrophy. It is suggested that this association may represent a hitherto unreported entity with an autosomal recessive pattern of inheritance, although chance cooccurrence cannot be exclud ed.