An Irish three-generation family of Cornelia de Lange syndrome displaying autosomal dominant inheritance
- 1 October 2003
- journal article
- case report
- Published by Wolters Kluwer Health in Clinical Dysmorphology
- Vol. 12 (4) , 241-244
- https://doi.org/10.1097/00019605-200310000-00006
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.Keywords
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