巨角膜-智力发育迟缓综合征：另一例病例报告。
Megalocornea-mental retardation syndrome: an additional case report.
作者信息
Naritomi K, Chinen Y, Tohma T
机构信息
Department of Pediatrics, University of the Ryukyus School of Medicine, 207 Uehara, Nishihara, Okinawa 903-01, Japan.
出版信息
Jpn J Hum Genet. 1997 Sep;42(3):461-5. doi: 10.1007/BF02766950.
PMID:12503196
Abstract
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.
摘要
我们在此报告一例患有巨角膜-智力发育迟缓（MMR）综合征的日本男婴。他患有巨角膜（角膜直径：13毫米），无青光眼，有发育迟缓、肌张力减退、额部隆起、高拱腭、鲤鱼样嘴、小颌畸形和髓鞘形成延迟。他似乎属于MMR综合征的韦洛类型。
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