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Irish Child Health Database - Peer Reviewed Papers

Database Search

Irish Child Health Database » » F » Face/abnormalities

Face/abnormalities

Your search returns 1 documents

1. An Irish three-generation family of Cornelia de Lange syndrome displaying autosomal dominant inheritance

This case report discusses a classically affected neonate with de Lange syndrome, an affected mother and probably affected maternal grandmother

Abstract:

The existence of familial de Lange syndrome has been documented in sibs and in parent-child families, but the inheritance pattern continues to be the cause of much debate. We describe a classically affected neonate with de Lange syndrome, an affected mother and probably affected maternal grandmother. These cases show evidence for a dominantly inherited syndrome with a de Lange phenotype. more...

International Classification:

Syndrome

Categories:

de Lange syndrome

Geography:

Northern Ireland

Clin Dysmorphol, Vol: 12 Page: 241-4 October 2003
V. McConnell; T. Brown; P. J. Morrison

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