一种具有先天性青光眼且可能为常染色体隐性遗传的独特畸形综合征。
A distinct dysmorphic syndrome with congenital glaucoma and probable autosomal recessive inheritance.
作者信息
García-Cruz D, Mendoza R, Villar V, Sanchez-Corona J, García-Cruz M O, Rojas Q, Chavez-Anaya F, Nazara Z, Barrios M T, Cantu J M
机构信息
División de Genética, Instituto Mexicano del Seguro Social, Jalisco.
出版信息
Ophthalmic Paediatr Genet. 1990 Mar;11(1):35-40. doi: 10.3109/13816819009012947.
PMID:2348980
Abstract
Three sisters with congenital glaucoma, peculiar facies and mild skeletal anomalies are described. It is concluded that such an aggregate of anomalies probably corresponds to a 'new' autosomal recessive syndrome.
摘要
本文描述了三例患有先天性青光眼、特殊面容及轻度骨骼异常的姐妹。结论是，这样一组异常情况可能对应一种“新的”常染色体隐性综合征。
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