Cleft lip and cone-rod dystrophy in a consanguineous sibship.
Three siblings from a consanguineous marriage were found to have a cleft lip. Two of them developed a progressive retinopathy which was identified 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 co-occurrence cannot be excluded.
Clinical Genetics Center Utrecht, The Netherlands.
M G
MG
Ausems
D
D
Wittebol-Post
R C
RC
Hennekam
D000328:Adult; D002971:Cleft Lip / Q000235:genetics / Q000473:pathology*; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009679:Nuclear Family; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000235:genetics / Q000473:pathology*