Three siblings with Woodhouse-Sakati syndrome in an Indian family.
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.
Koshy
George
G
Departments of Endocrinology Clinical Genetics Haematology, Christian Medical College, Vellore M.V. Hospital for Diabetes (Pvt) Ltd., Chennai, India.
Danda
Sumita
S
Thomas
Nihal
N
Mathews
Vikram
V
Viswanathan
Vijay
V
D000328:Adult; D000505:Alopecia / Q000473:pathology; D003638:Deafness / Q000473:pathology; D003920:Diabetes Mellitus / Q000473:pathology; D004562:Electrocardiography; D006801:Humans; D007194:India; D008607:Intellectual Disability / Q000473:pathology; D010641:Phenotype; D016553:Purpura, Thrombocytopenic, Idiopathic / Q000473:pathology*; D035781:Siblings; D013577:Syndrome