Article
Radiological features in Brachmann-de Lange syndrome.
American journal of medical genetics - 15 Nov 1993
Braddock S R, Lachman R S, Stoppenhagen C C, Carey J C, Ireland M, Moeschler J B, Cunniff C, Graham J M
Abstract excerpt
Brachmann-de Lange syndrome (BDLS) is a well-delineated disorder consisting variably of pre- and postnatal growth deficiency, microbrachycephaly, characteristic face, hypertrichosis, visceral anomalies, and limb defects consisting primarily of variable limb reduction defects, micromelia, and elbow abnormalities. The course is usually marked by initial hypertonicity, low-pitched weak cry, feeding problems, and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.