Slater C P, Ross J, Nelson M M, Coetzee E J
S Afr Med J. 1985 May 25;67(21):863-6.
The campomelic syndrome is a skeletal dysplasia of unknown aetiology which is apparent at birth and is characterized by bilateral bowing of the tibiae, clubfoot and other multiple congenital abnormalities. Up to 50% of cases are either stillborn or die within 24 hours of birth in respiratory distress. With a few exceptions, the remainder die within 10 months. The patient in this report demonstrated characteristic features of the syndrome which were detected antenatally by ultrasound and confirmed after delivery. The apparently female infant died 2 hours postpartum in respiratory distress, but was subsequently found to have a 46,XY chromosome constitution. Autopsy and postmortem radiographs revealed multiple congenital abnormalities consistent with the campomelic syndrome. The findings in this case are discussed and the possibility of antenatal diagnosis is raised.
弯肢侏儒综合征是一种病因不明的骨骼发育异常，出生时即可明显表现出来，其特征为双侧胫骨弯曲、马蹄内翻足及其他多种先天性异常。高达50%的病例为死产或出生后24小时内因呼吸窘迫死亡。除少数例外，其余患者在10个月内死亡。本报告中的患者表现出该综合征的特征性表现，产前通过超声检测到，产后得到证实。这名明显为女性的婴儿产后2小时因呼吸窘迫死亡，但随后发现其染色体组成为46,XY。尸检及死后X光片显示存在与弯肢侏儒综合征相符的多种先天性异常。本文讨论了该病例的发现并提出了产前诊断的可能性。
