Familial syndrome resembling Aarskog syndrome
β Scribed by Mingzhi Xu; Ming Qi; Huali Zhou; Jing Yong; Huiqing Qiu; Peikuan Cong; Xutao Hong; Chengjiang Li; Yan Jiang; Xiao Chen; Yunsong Yu
- Publisher
- John Wiley and Sons
- Year
- 2010
- Tongue
- English
- Weight
- 223 KB
- Volume
- 152A
- Category
- Article
- ISSN
- 1552-4825
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## Abstract CoffinβSiris syndrome is a multiple congenital anomaly/mental retardation syndrome with phenotypic variability [OMIM 135900]. The diagnosis is based solely on clinical findings, as there is currently no molecular, biochemical, or cytogenetic analysis available to confirm a diagnosis. Al
We report on 10 Japanese individuals from 3 families affected with Aarskog syndrome. Pulmonary stenosis and ventricular septal defect with spontaneous closure were detected respectively, in 2 of them as an uncommon finding. A review documented 169 non-Japanese cases (2 with congenital heart defects)
Five individuals in one family, including dizygotic male twins, a half brother and their mother, had Aarskog syndrome (AS). Phenotypic variability is wide not only between mother and sons but also between sibs. Collectively, the affected relatives have the full spectrum of findings seen in AS. Based