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[弯肢侏儒综合征(作者译)]

[Campomelic syndrome (author's transl)].

作者信息

Ameri M R, Alebouyeh M, Amirfeyz M, Ziai M, Rafii M R, Gandjour A

出版信息

Monatsschr Kinderheilkd (1902). 1978 Nov;126(11):687-9.

PMID:723880
Abstract

A female premature infant with dwarfism, peculiar facial features, cleft palate and bone anomalies including bowing of the lower extremities with pretibial skin dimpling, the so called "campomelic syndrome" is presented. Other symptoms were hypotonia and respiratory distress. The radiological and autopsy findings in this child are described. The lack of known teratogenic factors during the pregnancy and the available data about the familial occurance of this malformation syndrome suggest the possibility of an autosomal recessive mode of inheritance in this patient. This is the first case of campomelic syndrome reported from Iran.

摘要

本文报告了一名患有侏儒症、特殊面容、腭裂及骨骼异常(包括下肢弓形弯曲伴胫前皮肤凹陷,即所谓的“弯肢侏儒综合征”)的女性早产儿。其他症状为肌张力减退和呼吸窘迫。描述了该患儿的影像学及尸检结果。孕期缺乏已知致畸因素以及该畸形综合征家族发病的现有数据提示该患者可能为常染色体隐性遗传模式。这是伊朗报道的首例弯肢侏儒综合征病例。

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