Cleft lip and cone-rod dystrophy in a consanguineous sibship
M G Ausems1, D Wittebol-Post, R C Hennekam
1Clinical Genetics Center Utrecht, The Netherlands.
Clinical Dysmorphology
|October 1, 1996
Abstract:
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.
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