Kuroki Y, Suzuki Y, Chyo H, Hata A, Matsui I
J Pediatr. 1981 Oct;99(4):570-3. doi: 10.1016/s0022-3476(81)80256-9.
Five unrelated patients with a previously unrecognized mental retardation malformation syndrome are presented. Clinical features common to them include moderate mental retardation, postnatal dwarfism, susceptibility to infection in infancy, and peculiar craniofacial dysmorphia characterized by long palpebral fissures, high-arched and abnormal eyebrows, heavy and long eyelashes, large ears, short nasal septum and/or depressed nasal tip, and cleft palate. Other anomalies are stubby fingers, deformed vertebra and other bone and joint anomalies, and abnormal dermatoglyphics. The absence of familial occurrence and of consanguinity suggests some environmental causation, but the possibility of an autosomal dominant or X-linked mode of inheritance remains. Based upon our five patients and other five of Niikawa et al, we propose this syndrome as a new disease entity.
本文报告了5例患有先前未被认识的智力发育迟缓畸形综合征的非亲缘关系患者。他们共有的临床特征包括中度智力发育迟缓、出生后侏儒症、婴儿期易感染，以及特殊的颅面畸形，其特征为睑裂长、眉弓高且异常、睫毛浓密且长、耳朵大、鼻中隔短和/或鼻尖凹陷、腭裂。其他异常包括手指粗短、椎骨畸形以及其他骨骼和关节异常，还有异常的皮纹。家族性发病和近亲婚配的缺失提示可能存在某些环境因素致病，但常染色体显性或X连锁遗传模式的可能性仍然存在。基于我们的5例患者以及Niikawa等人报道的另外5例患者，我们将此综合征提议为一种新的疾病实体。
