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?
Authors:
- 1 December 1987
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 32 (6) , 388-392
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.Keywords
This publication has 2 references indexed in Scilit:
- Partial fra(X) phenotype with megalotestes in fra(X)‐negative patients with acquired lesions of the central nervous systemAmerican Journal of Medical Genetics, 1986
- The fragile X syndrome: A study of 83 familiesClinical Genetics, 1984