Additional case of Neuhäuser megalocornea and mental retardation syndrome with congenital hypotonia.
作者信息
Santolaya J M, Grijalbo A, Delgado A, Erdozaín G
机构信息
Department of Pediatrics, Faculty of Medicine, University of Basque Country, Hospital of Basurto, Bilbao, Spain.
出版信息
Am J Med Genet. 1992 Jun 1;43(3):609-11. doi: 10.1002/ajmg.1320430321.
PMID:1605258
Abstract
We report on a 3-1/2-year-old Spanish girl with the Neuhäuser megalocornea and mental retardation syndrome. A review shows that megalocornea, mental retardation, and, presumably, hypotonia, are the major manifestations for diagnosis. The facial appearance of the typical cases is characterised by frontal bossing, broad nasal bridge, mild hypertelorism, long upper lip, and small mandible.
摘要
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