Brachmann–de Lange syndrome (BDLS) with asymmetry and skin pigmentary anomalies: A result of mosaicism for a putative bdls gene mutation?

• Published in: American journal of medical genetics. Part A Vol. 118A; no. 4; pp. 358 - 361
• Main Authors: Zankl, Andreas, Rampa, Antonio, Schinzel, Albert
• Format: Journal Article
• Language: English
• Published: New York Wiley Subscription Services, Inc., A Wiley Company 01.05.2003
• Subjects: Adolescent; CdLS; Child; Child, Preschool; Cornelia de Lange syndrome; De Lange Syndrome - pathology; Facial Asymmetry - pathology; Female; hemihypertrophy; hemihypotrophy; Humans; Mosaicism - pathology; Pigmentation Disorders - pathology; Switzerland; Switzerland
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.20069

Brachmann–de Lange syndrome (BDLS, OMIM 122470) is a rare malformation syndrome characterized by mental retardation, short stature, limb abnormalities, and a distinctive craniofacial appearance. There is wide clinical variability and mildly affected patients are common. The genetic basis of BDLS and the reasons for its phenotypical variability are still unknown. We report on a patient with mild BDLS and the unusual findings of asymmetric growth of one body half and irregularly shaped pigmentary anomalies of the skin. These two traits have not been previously described in BDLS but have been associated with phenomena of genetic mosaicism in other conditions. We suggest that this patient's phenotype could be the result of mosaicism for a mutation or submicroscopic deletion affecting one or several genes responsible for BDLS. © 2003 Wiley‐Liss, Inc.