Brachmann-de Lange Syndrome: casereport and Clinical Review

Authors

Huey-Jen Lay
Chia-Chen Hsu

Translated Title

BraChman-deLangeSyndrome：病例報告及文獻回顧

Abstract

The diagnostic criteria of Brachmann-de Lange syndrome includes: 1. congenital malformations; 2. growth retardation; 3. neurodevelopmental delay. The prevalence estimated by Beck(1976) was 0.5/100,000, but as much as fivefold byOpitz(1985). The etiology remains unknown. Although a few cases had evidence of genetic origin, the majorities were sporadic. Here we reported is a case with classic Brachmann-de Lange syndrome. He has classic facial features including synophrys, long eyelashes, log philtrum, thin upper lip and downturned corners of the mouth. Flexion contracture over bilateral elbow and hands are noted The head circomference, height and body weight and body weight are all below 3rd percentile of normal curvature. Marked delay of developmental mile stones including gross motor, fine motor, speech and psychosocial developments are noted. Since early intervention of developmental defecit is very important in these patients, it is reported, and literatures reviewed.

Language

Traditional Chinese

First Page

65

Last Page

70

Recommended Citation

Lay, Huey-Jen and Hsu, Chia-Chen (1995) "Brachmann-de Lange Syndrome: casereport and Clinical Review," Rehabilitation Practice and Science: Vol. 23: Iss. 1, Article 21.
DOI: https://doi.org/10.6315/3005-3846.1982
Available at: https://rps.researchcommons.org/journal/vol23/iss1/21