Megalocornea mental retardation syndrome: An additional case report

被引：4
作者：
Naritomi, K
Chinen, Y
Tohma, T
机构：
[1] Department of Pediatrics, University of the Ryukyus, School of Medicine, Nishihara, Okinawa 903-01
来源：
JAPANESE JOURNAL OF HUMAN GENETICS | 1997年 / 42卷 / 03期
关键词：
megalocornea mental retardation syndrome; MMR syndrome; MCA/MR syndrome;
D O I：
10.1007/BF02766950
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We report here on a Japanese male infant with megalocornea-mental retardation (MMR) syndrome. He had megalocornea (corneal diameter: 13 mm) without glaucoma, developmental retardation, hypotonia, frontal bossing, high-arched palate, carp-like mouth, micrognathia, and delayed myelination. He seems to be included in Verloes type of the MMR syndrome.
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收藏
页码：461 / 465
页数：5
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