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Cleft lip and cone-rod dystrophy in a consanguineous sibship

Authors :
Raoul C.M. Hennekam
Margreet G. E. M. Ausems
D. Wittebol-Post
Source :
Clinical Dysmorphology. 5:307
Publication Year :
1996
Publisher :
Ovid Technologies (Wolters Kluwer Health), 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 inherita

Details

ISSN :
09628827
Volume :
5
Database :
OpenAIRE
Journal :
Clinical Dysmorphology
Accession number :
edsair.doi...........1edfbcbf8b59151f3a866fce087e3773