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瑞氏综合征的进一步描述。

Further delineation of Raine syndrome.

作者信息

Al-Gazali L I, Jehier K, Nazih B, Abtin F, Haas D, Sadagahatian R

机构信息

Department of Paediatrics, Faculty of Medicine and Health Sciences, UAE University, PO Box 17666, Al Ain, UAE.

出版信息

Clin Dysmorphol. 2003 Apr;12(2):89-93. doi: 10.1097/00019605-200304000-00003.

Abstract

We report o a baby from an Arab family with Raine syndrome. The baby presented at birth with severe craniofacial anomalies including a wide anterior fontanelle, exophthalmos, severe depression of the nasal bridge with a hypoplastic midface, bilateral choanal atresia and a large protruding tongue. All the limbs were short and the thorax was small. Radiologically there was increased bone density in some bones, periosteal new bone formation and marked bowing of the femurs, tibiae, and ulnae. We suggest that osteosclerosis in Raine syndrome is not necessarily severe and generalized, and bowing of the long bones is another variable radiological feature of the syndrome.

摘要

我们报告了一名来自阿拉伯家庭的患有雷恩综合征的婴儿。该婴儿出生时即表现出严重的颅面畸形,包括前囟宽大、眼球突出、鼻梁严重凹陷伴中面部发育不全、双侧后鼻孔闭锁以及巨大的突出舌头。所有四肢短小,胸廓狭小。放射学检查显示,一些骨骼的骨密度增加、骨膜新生骨形成,股骨、胫骨和尺骨明显弯曲。我们认为,雷恩综合征中的骨硬化不一定严重且普遍存在,长骨弯曲是该综合征另一个可变的放射学特征。

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