多发性关节强硬、面部异常与严重产前脊髓性肌萎缩相关的肺发育不全。
Multiple ankyloses, facial anomalies, and pulmonary hypoplasia associated with severe antenatal spinal muscular atrophy.
作者信息
Moerman P, Fryns J P, Goddeeris P, Lauweryns J M
出版信息
J Pediatr. 1983 Aug;103(2):238-41. doi: 10.1016/s0022-3476(83)80352-7.
PMID:6875715
Abstract
Two unrelated patients with multiple ankyloses, pulmonary hypoplasia, and characteristic facies syndrome had definite evidence of severe spinal muscular atrophy of prenatal onset. In addition, there were specific changes in the adrenal cortex.
摘要
两名患有多发性关节强硬、肺发育不全及特征性面容综合征的无血缘关系患者有明确证据表明存在产前起病的严重脊髓性肌萎缩。此外，肾上腺皮质有特定变化。
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