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  • Title: Cleft lip and cone-rod dystrophy in a consanguineous sibship.
    Author: Ausems MG, Wittebol-Post D, Hennekam RC.
    Journal: Clin Dysmorphol; 1996 Oct; 5(4):307-11. PubMed ID: 8905195.
    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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