短肢畸形、缺指（趾）畸形、颅骨缺损及泌尿系统异常：是申策尔短肢畸形综合征吗？
Phocomelia, ectrodactyly, skull defect and urinary system anomaly: Schinzel-phocomelia syndrome?
作者信息
Evliyaoğlu N, Temoçin A K, Altintaş D U, Duman N, Satar N, Süleymanova D
机构信息
Department of Pediatrics, Faculty of Medicine, University of Cukurova, Adana, Turkey.
出版信息
Clin Genet. 1996 Feb;49(2):70-3. doi: 10.1111/j.1399-0004.1996.tb04330.x.
Abstract
This report describes a girl with phocomelia of the right upper limb, ectrodactyly, sacral hypoplasia and a large skull defect, but with normal growth and mental development. Ultrasonography and intravenous pyelography showed bilateral hydronephrosis and dilated ureters. We conclude that this patient may represent Schinzel-phocomelia syndrome with additional urinary tract anomalies.
摘要
本报告描述了一名患有右上肢短肢畸形、缺指（趾）畸形、骶骨发育不全和巨大颅骨缺损，但生长和智力发育正常的女孩。超声检查和静脉肾盂造影显示双侧肾积水和输尿管扩张。我们得出结论，该患者可能代表伴有额外泌尿系统异常的申泽尔短肢畸形综合征。
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