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?
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.
Fryns
J P
JP
Center for Human Genetics, University of Leuven, Belgium.
Haspeslagh
M
M
Dereymaeker
A M
AM
Volcke
P
P
Van den Berghe
H
H
D000328:Adult; D002648:Child; D005600:Fragile X Syndrome / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging; D006801:Humans; D007027:Hypothalamic Diseases / Q000235:genetics*; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D010641:Phenotype; D011859:Radiography; D012729:Sex Chromosome Aberrations / Q000235:genetics*