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?
Clinical GeneticsPublished 1 December 1987
J. P. Fryns, Marc Haspeslagh, A. Dereymaeker, Ph. Volcke, Herman Van den Berghe
Citations42
SJR quartileQ2
SJR score1.09
SNIP1.08
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TL;DR
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 are described.
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
Biochemistry, Genetics and Molecular Biology
Clinical GeneticsThe fragile X syndrome: A study of 83 families
101 Citations1984J. P. Fryns
The present report summarizes the experience on the mar(X) syndrome in a total of 157 male patients (44 prepubertal and 113 postpubertal) ascertained through 83 index patients from 83 families under investigation.
American Journal of Medical GeneticsPartial fra(X) phenotype with megalotestes in fra(X)‐negative patients with acquired lesions of the central nervous system
28 Citations1986Jean‐Pierre Fryns, A. Dereymaeker +5 more
The finding of megalotestes associated with a partial fra(X) phenotype in the present patients and, more particularly, the documentation of a hypothalamic tumor in the first patient, suggests that a specific hypothalamic lesion in fra( X) males is responsible for some of their manifestations.