巨角膜-智力发育迟缓综合征：1例新病例报告。
Megalocornea-mental retardation syndrome: report of a new case.
作者信息
Barisić I, Ligutić I, Zergollern L
机构信息
Department of Medical Genetics, Children's Hospital Zagreb, Croatia.
出版信息
J Med Genet. 1996 Oct;33(10):882-3. doi: 10.1136/jmg.33.10.882.
Abstract
Megalocornea-mental retardation syndrome (MMR) is a rare autosomal recessive disorder presenting with megalocornea, mental and motor retardation, hypotonia, seizures, short stature, and characteristic dysmorphic traits (MIM 249310). We present a new case in order to delineate with more accuracy the typical phenotype.
摘要
巨角膜-智力发育迟缓综合征（MMR）是一种罕见的常染色体隐性疾病，表现为巨角膜、智力和运动发育迟缓、肌张力减退、癫痫发作、身材矮小以及特征性的畸形特征（MIM 249310）。我们报告一例新病例，以便更准确地描述典型表型。
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