Article
Variability of the Brachmann-de Lange syndrome.
American journal of medical genetics - 15 Nov 1993
Selicorni A, Lalatta F, Livini E, Briscioli V, Piguzzi T, Bagozzi D C, Mastroiacovo P, Zampino G, Gaeta G, Pugliese A
Abstract excerpt
Brachmann-de Lange syndrome (BDLS) is a relatively common multiple congenital anomaly/mental retardation syndrome, whose cause is unknown. The clinical variability of this condition is well-known. Recently some reports suggested the possible existence of a mild BDLS phenotype. We report on 30 pat...
Topics
- Adolescent
- Adult
- Child
- Child, Preschool
- De Lange Syndrome
- Face
- Female
- Growth Disorders
- Humans
- Infant
- Infant, Newborn
- Intellectual Disability
- Limb Deformities, Congenital
- Male
- Phenotype
- Psychomotor Disorders