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阿斯克格综合征:对外科医生的意义。

Aarskog syndrome: significance for the surgeon.

作者信息

Andrassy R J, Murthy S, Woolley M M

出版信息

J Pediatr Surg. 1979 Aug;14(4):462-4. doi: 10.1016/s0022-3468(79)80016-0.

Abstract

A familial syndrome of short stature associated with facial dysplasia and congenital anomalies was reported by Aarskog in 1970. Subsequently, at least 53 patients in 13 affected families have been reported. The family to be described came under investigation following referral of one of the nine siblings to the surgical clinic at Childrens Hospital of Los Angeles for the evaluation of a right inguinal hernia. Recognition of the syndrome and further evaluation of the remaining siblings led to the diagnosis of several genital anomalies requiring surgical correction.

摘要

1970年,阿尔斯科格报道了一种与面部发育异常和先天性畸形相关的家族性身材矮小综合征。随后,已有报道称在13个受影响的家庭中至少有53名患者。在洛杉矶儿童医院外科诊所,九个兄弟姐妹中的一个因右侧腹股沟疝接受评估而被转诊后,这个要被描述的家庭接受了调查。对该综合征的识别以及对其余兄弟姐妹的进一步评估导致诊断出几例需要手术矫正的生殖器异常。

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