| Literature DB >> 18049083 |
George Koshy1, Sumita Danda, Nihal Thomas, Vikram Mathews, Vijay Viswanathan.
Abstract
Woodhouse-Sakati syndrome consists of alopecia, hypogonadism, diabetes mellitus, mild mental retardation, sensorineural deafness and ECG abnormalities. The proband described here has the above-mentioned features and presented with idiopathic thrombocytopenic purpura not reported before. Phenotypic variability is present in the three affected siblings. The two sisters have hypergonadotropic hypogonadism and the brother has hypogonadotropic hypogonadism. Camptodactyly of fourth and fifth fingers is seen in proband and her brother. We report for the first time three affected siblings of Woodhouse-Sakati syndrome in an Indian family.Entities:
Mesh:
Year: 2008 PMID: 18049083 DOI: 10.1097/MCD.0b013e3282beb59e
Source DB: PubMed Journal: Clin Dysmorphol ISSN: 0962-8827 Impact factor: 0.816