Korean J Dermatol.  2005 Oct;43(10):1413-1415.

Familial Brachmann-de Lange Syndrome with Dorsal Hypertrichosis

• Yoon HS
• Lee SH
• Eun HC
• Kwon OS

Abstract

Brachmann-de Lange syndrome (BDLS) is a dysmorphic syndrome, including growth deficiency, characteristic facial features, mental retardation, hypertrichosis, and varied malformations of the musculoskeletal system and other organs. Although some cases of BDLS have been reported in Korea, no case has been shown to have the familial incidence. Herein, we report a familial occurrence of BDLS. A three-year-old girl visited our clinic with complaint of thick hairs on her midback since birth. She presented with the characteristic facial features of BDLS and brachydactyly which were also shown in her mother. It was suggested that the mode of transmission to the patient was autosomal dominant inheritance.

Keyword

Brachmann-de Lange syndrome; Dorsal hypertrichosis

MeSH Terms

Brachydactyly
De Lange Syndrome*
Female
Hair
Humans
Hypertrichosis*
Incidence
Intellectual Disability
Korea
Mothers
Musculoskeletal System
Parturition
Wills