Literature DB >> 8905195

Cleft lip and cone-rod dystrophy in a consanguineous sibship.

M G Ausems1, D Wittebol-Post, R C Hennekam.   

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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Year:  1996        PMID: 8905195

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN: 0962-8827            Impact factor:   0.816


  1 in total

Review 1.  Cone rod dystrophies.

Authors:  Christian P Hamel
Journal:  Orphanet J Rare Dis       Date:  2007-02-01       Impact factor: 4.123

  1 in total

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