Three siblings with Woodhouse–Sakati syndrome in an Indian family

Department of Endocrinology, Christian Medical College, Vellore, India.
Clinical Dysmorphology (Impact Factor: 0.61). 02/2008; 17(1):57-60. DOI: 10.1097/MCD.0b013e3282beb59e
Source: PubMed


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.

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Available from: Nihal Thomas, Oct 06, 2015
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