Prader‐Willi‐like phenotype in fragile X syndrome
- 1 April 1994
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 45 (4) , 175-180
- https://doi.org/10.1111/j.1399-0004.1994.tb04018.x
Abstract
A 3-year-old boy was referred to the pediatric department because of unexplained extreme obesity. Height and occipitofrontal circumference were just above the 90th centile. Endocrine studies failed to show any significant abnormality. Motor and speech development were generally delayed. On clinical-cytogenetic-molecular grounds, Prader-Willi syndrome was excluded. Fragile X syndrome was diagnosed by the presence of the classical FMR-1 mutation and confirmed by cytogenetic studies, revealing 20% fragile X positive cells. We compare the clinical features in the present patient with the nine reported patients with fra(X) syndrome and extreme obesity. In pathogenesis, hypothalamic dysregulation is hypothesized. In differential diagnosis of Prader-Willi syndrome, fragile X has to be considered, especially when laboratory workup for Prader-Willi syndrome is negative. Clinical behavior can be of help.Keywords
This publication has 20 references indexed in Scilit:
- Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndromePublished by Elsevier ,1991
- True precocious puberty in a girl with the fragile X syndromeAmerican Journal of Medical Genetics, 1990
- Prader‐Willi syndrome: Current understanding of cause and diagnosisAmerican Journal of Medical Genetics, 1990
- Do some patients with fragile X syndrome have precocious puberty?American Journal of Medical Genetics, 1988
- Investigation of the twinning rate in families with the fragile X syndromeAmerican Journal of Medical Genetics, 1988
- 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 Genetics, 1987
- Fragile (X) syndrome: a study of the psychological profile in 23 prepubertal patientsClinical Genetics, 1987
- Cerebral gigantism (Sotos syndrome) in two patients with fra(X) chromosomesAmerican Journal of Medical Genetics, 1986
- The fragile X syndrome: A study of 83 familiesClinical Genetics, 1984
- X-linked mental retardation, macro-orchidism, and the Xq27 fragile siteThe Journal of Pediatrics, 1980