Cleft lip and cone-rod dystrophy in a consanguineous sibship

Margreet G.E.M. Ausems*, Dienke Wittebol-Post, Raoul C.M. Hennekam

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

3 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)307-311
Number of pages5
JournalClinical dysmorphology
Volume5
Issue number4
DOIs
Publication statusPublished - 1996
Externally publishedYes

Keywords

  • autosomal recessive inheritance
  • cleft lip
  • cone-rod dystrophy
  • retinopathy

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