KABUKI MAKE-UP SYNDROME - A SYNDROME OF MENTAL-RETARDATION, UNUSUAL FACIES, LARGE AND PROTRUDING EARS, AND POSTNATAL-GROWTH DEFICIENCY
KABUKI MAKE-UP SYNDROME - A SYNDROME OF MENTAL-RETARDATION, UNUSUAL FACIES, LARGE AND PROTRUDING EARS, AND POSTNATAL-GROWTH DEFICIENCY
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DOI：
10.1016/s0022-3476(81)80255-7
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发表时间：
1981-01-01
影响因子：
5.1
通讯作者：
KAJII, T
中科院分区：
文献类型：
--
作者：
NIIKAWA, N;MATSUURA, N;KAJII, T
在5名无血缘关系的日本儿童中观察到一种以前未被认识到的智力迟钝畸形综合征。一致的临床特征包括中重度智力迟钝，出生后发病的进行性侏儒症，以长睑裂为特征的特殊相，下眼睑外侧三分之一外翻，眉毛拱起，鼻尖宽而凹陷，耳垂大而突出，5指短，皮肤纹异常，包括缺少数字三叉肌c或d，以及婴儿期常见的中耳炎。不一致的异常包括上眦褶皱、腭裂或高弓、牙齿间距大、枕毛线低、脊柱侧凸和髋关节脱位。既没有家族性的发生，也没有父母的血缘关系。畸形综合征的病因尚不清楚。
A previously unrecognized mental retardation malformation syndrome was observed in 5 unrelated Japanese children. Consistent clinical features included moderate-to-severe mental retardation, progressive dwarfism of postnatal onset, a peculiar facies characterized by long palpebral fissures, with eversion of the lateral 3rd of the lower eyelids, arched eyebrows, broad and depressed nasal tip, large prominent earlobes, short 5th fingers, abnormal dermatoglyphics including absence of digital triradius c or d, and frequent otitis media in infancy. Inconsistent abnormalities included epicanthal folds, cleft or high-arched palate, widely spaced teeth, low occipital hair line, scoliosis and dislocation of the hip joint. Neither familial occurrence nor parental consanguinity was noted. The etiology of the malformation syndrome remains unknown.