Literature DB >> 3436088

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

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.

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Year:  1987        PMID： 3436088     DOI： 10.1111/j.1399-0004.1987.tb03155.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  14 in total

1.  Altered mTOR signaling and enhanced CYFIP2 expression levels in subjects with fragile X syndrome.

Authors:  C A Hoeffer; E Sanchez; R J Hagerman; Y Mu; D V Nguyen; H Wong; A M Whelan; R S Zukin; E Klann; F Tassone
Journal:  Genes Brain Behav       Date:  2012-02-15       Impact factor: 3.449

Review 2.  Fragile X syndrome. Molecular and clinical insights and treatment issues.

Authors:  R J Hagerman
Journal:  West J Med       Date:  1997-02

3.  General overgrowth in the fragile X syndrome: variability in the phenotypic expression of the FMR1 gene mutation.

Authors:  B B de Vries; H Robinson; I Stolte-Dijkstra; C V Tjon Pian Gi; P F Dijkstra; J van Doorn; D J Halley; B A Oostra; G Turner; M F Niermeijer
Journal:  J Med Genet       Date:  1995-10       Impact factor: 6.318

Review 4.  The neurobiology of the Prader-Willi phenotype of fragile X syndrome.

Authors:  Zukhrofi Muzar; Reymundo Lozano; Alexander Kolevzon; Randi J Hagerman
Journal:  Intractable Rare Dis Res       Date:  2016-11

5.  An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene.

Authors:  F Quan; J Zonana; K Gunter; K L Peterson; R E Magenis; B W Popovich
Journal:  Am J Hum Genet       Date:  1995-05       Impact factor: 11.025

6.  Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype.

Authors:  B B de Vries; J P Fryns; M G Butler; F Canziani; E Wesby-van Swaay; J O van Hemel; B A Oostra; D J Halley; M F Niermeijer
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

Review 7.  Advances in the treatment of fragile X syndrome.

Authors:  Randi J Hagerman; Elizabeth Berry-Kravis; Walter E Kaufmann; Michele Y Ono; Nicole Tartaglia; Ave Lachiewicz; Rebecca Kronk; Carol Delahunty; David Hessl; Jeannie Visootsak; Jonathan Picker; Louise Gane; Michael Tranfaglia
Journal:  Pediatrics       Date:  2009-01       Impact factor: 7.124

Review 8.  The fragile X syndrome.

Authors:  B B de Vries; D J Halley; B A Oostra; M F Niermeijer
Journal:  J Med Genet       Date:  1998-07       Impact factor: 6.318

9.  Fragile x syndrome.

Authors:  Yingratana McLennan; Jonathan Polussa; Flora Tassone; Randi Hagerman
Journal:  Curr Genomics       Date:  2011-05       Impact factor: 2.236

10.  Prader-willi syndrome: clinical aspects.

Authors:  Grechi Elena; Cammarata Bruna; Mariani Benedetta; Di Candia Stefania; Chiumello Giuseppe
Journal:  J Obes       Date:  2012-10-23
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