Birth Defects Orig Artic Ser. 1975;11(2):362-3.

Cornelia de Lange syndrome in an Egyptian child.

Abstract

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A case report of Cornelia de Lange syndrome in a male infant born to a woman who had been taking oral contraceptives for 18 months prior to the pregnancy, and had inadvertently taken 6 pills during the 1st month of pregnancy, is presented. The facies in the Cornelia de Lange syndrome are considered as diagnostic as those in Mongolism or Down Syndrome. Since the parents were not related by birth, the occurrence of this rare malformation in a population of high consanguinity may be evidence against an autosomal recessive etiology. The genetic etiology of the syndrome has not yet been defined.

PMID:: 1227551; [PubMed - indexed for MEDLINE]

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Cited by 1 PubMed Central article

A case of Cornelia de Lange syndrome from Sudan. [BMC Pediatr. 2007]
A case of Cornelia de Lange syndrome from Sudan.
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