| Literature DB >> 3239567 |
Abstract
We report on an 8 1/2-year-old white girl with fra (X) syndrome; she had mental deficiency, hyperactivity, speech disturbances, slightly prominent ears, mild joint laxity and 20% fra (X) expression. Additional findings include idiopathic precocious puberty and a right ovarian cyst. Ovarian cysts have been reported previously in heterozygous females, but to our knowledge idiopathic precocious puberty is a new finding in this syndrome. Whether precocious puberty is a coincidental finding in this patient or a previously unreported manifestation of the fra (X) syndrome is not clear.Entities:
Mesh:
Year: 1988 PMID: 3239567 PMCID: PMC5459608 DOI: 10.1002/ajmg.1320310408
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299