학술논문
Familial iridogoniodysgenesis and skeletal anomalies: a probable new autosomal recessive disorder
Document Type
Academic Journal
Author
Source
Clinical Genetics. Jul 01, 2004 66(1):23-29
Subject
Language
English
ISSN
0009-9163
Abstract
Three sibs with congenital glaucoma, skeletal anomalies, and peculiar facial appearance were studied. At birth, enlarged eyes and corneae were present in the proposita and her two brothers due to congenital glaucoma secondary to iridogoniodysgenesis (IGD). The purpose of this article is to describe the second familial case with IGD and skeletal anomalies as the family previously described by García-Cruz et al. in 1990, corroborating this new distinct dysmorphic syndrome with probable autosomal recessive inheritance.