A peculiar subphenotype in the fra(X) syndrome: extreme obesity-short stature-stubby hands and feet-diffuse hyperpigmentation. Further evidence of disturbed hypothalamic function in the fra(X) syndrome?

J P Fryns; M Haspeslagh; A M Dereymaeker; P Volcke; H Van den Berghe

doi:10.1111/j.1399-0004.1987.tb03155.x

A peculiar subphenotype in the fra(X) syndrome: extreme obesity-short stature-stubby hands and feet-diffuse hyperpigmentation. Further evidence of disturbed hypothalamic function in the fra(X) syndrome?

Clin Genet. 1987 Dec;32(6):388-92. doi: 10.1111/j.1399-0004.1987.tb03155.x.

Authors

J P Fryns¹, M Haspeslagh, A M Dereymaeker, P Volcke, H Van den Berghe

Affiliation

¹ Center for Human Genetics, University of Leuven, Belgium.

PMID: 3436088
DOI: 10.1111/j.1399-0004.1987.tb03155.x

Abstract

In this report we describe two fra(X) adults and two prepubertal fra(X) brothers with a combination of distinct phenotypic findings: extreme obesity, short stature, stubby hands and feet and diffuse hyper-pigmentation. These clinical abnormalities may be an additional indication of a specific hypothalamic disturbance in the fra(X) syndrome.

Publication types

Case Reports

MeSH terms

Adult
Child
Fragile X Syndrome / genetics*
Hand Deformities, Congenital / diagnostic imaging
Humans
Hypothalamic Diseases / genetics*
Intellectual Disability / genetics
Male
Phenotype
Radiography
Sex Chromosome Aberrations / genetics*