Three siblings with Woodhouse-Sakati syndrome in an Indian family

被引:26
作者
Koshy, George [1 ]
Danda, Sumita [2 ]
Thomas, Nihal [1 ]
Mathews, Vikram [3 ]
Viswanathan, Vijay [4 ]
机构
[1] Christian Med Coll & Hosp, Dept Endocrinol, Vellore 632004, Tamil Nadu, India
[2] Christian Med Coll & Hosp, Dept Clin Genet, Vellore 632004, Tamil Nadu, India
[3] Christian Med Coll & Hosp, Dept Haematol, Vellore 632004, Tamil Nadu, India
[4] MV Hosp Diabet Pvt Ltd, Madras, Tamil Nadu, India
关键词
India; thrombocytopenia; Woodhouse-Sakati;
D O I
10.1097/MCD.0b013e3282beb59e
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
引用
收藏
页码:57 / 60
页数:4
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