[Chromosome X-linked mental retardation and marfanoid syndrome]

J P Fryns; M Buttiens; H van den Berghe

[Chromosome X-linked mental retardation and marfanoid syndrome]

J Genet Hum. 1988 Jan;36(1-2):123-8.

[Article in French]

Authors

J P Fryns¹, M Buttiens, H van den Berghe

Affiliation

¹ Centre for Human Genetics, University of Leuven.

PMID: 3379374

Abstract

In the present paper we report two pairs of slightly to moderately mentally retarded brothers with Marfanoid habitus and similar craniofacial changes. They had a long and narrow face, small mandible, high-arched palate and hypernasal voice, as previously reported by Lujan et al. (1984) in 4 mentally retarded males of a large kindred. The present data suggest the existence of a specific type of X-linked mental retardation with Marfanoid habitus.

Publication types

Case Reports
English Abstract

MeSH terms

Adolescent
Adult
Chromosome Banding
Facial Bones / abnormalities*
Humans
Intellectual Disability / genetics*
Karyotyping
Male
Sex Chromosome Aberrations / genetics*
Syndrome
X Chromosome*