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一种伴有真性无眼球、手足缺陷和智力发育迟缓的综合征。

A syndrome with true anophthalmia, hand-foot defects and mental retardation.

作者信息

Pallotta R, Dallapiccola B

出版信息

Ophthalmic Paediatr Genet. 1984 Apr;4(1):19-23. doi: 10.3109/13816818409009889.

DOI:10.3109/13816818409009889
PMID:6544388
Abstract

A syndrome with true anophthalmia, facial anomalies, hand and foot defects and mental retardation, has been observed in three patients. This syndrome is different from the Lenz syndrome, which includes microphthalmia or anophthalmia with narrow shoulders, double thumbs, skeletal abnormalities such as clavicle thinning, dental, cardiovascular and urogenital malformations without mental retardation.

摘要

在三名患者中观察到一种伴有真性无眼球、面部畸形、手足缺陷和智力迟钝的综合征。该综合征与Lenz综合征不同,Lenz综合征包括小眼症或无眼球、窄肩、双拇指、锁骨变薄等骨骼异常、牙齿、心血管和泌尿生殖系统畸形,但无智力迟钝。

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