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罗伯茨-短肢畸形综合征(假性沙利度胺综合征):一例报告

Roberts-SC Phocomelia Syndrome (Pseudothalidomide Syndrome): A Case Report.

作者信息

Keypour Farideh, Naghi Ilana, Behnam Babak

机构信息

Department of Obstetrics and Gynecology, Tehran University of Medical Sciences, Tehran, Iran.

Department of Obstetrics and Gynecology, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

出版信息

J Family Reprod Health. 2013 Mar;7(1):45-7.

Abstract

A 39-year-old pregnant woman at 38 weeks of gestation was referred with labor pain to a hospital. She had consanguinity with her husband. A female newborn had multiple craniofacial anomalies and phocomelia in right upper limb. The disease locus was assigned to chromosome17q21. Four days later, infant died of cardiopulmonary arrest.

摘要

一名38周妊娠的39岁孕妇因宫缩疼痛被转诊至一家医院。她与丈夫有血缘关系。一名女婴有多处颅面畸形,右上肢有短肢畸形。疾病基因座定位于17号染色体q21区。四天后,婴儿因心肺骤停死亡。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3613/4064739/9da6a1c875eb/JFRH-7-045-g001.jpg

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