Iris Dysplasia Hypertelorism-Psychomotor Retardation Syndrome
General: Autosomal dominant inheritance; some features in common with Riege 141b16b r syndrome.
Ocular: Hypertelorism; telecanthus; hypoplasia of the iris stroma; abnormally prominent Schwalbe line; synechiae between iris and cornea; pear-shaped pupils.
Clinical: Bilateral or unilateral hip dislocation; facial anomalies; psychomotor retardation; hypotonia and hyperlaxity of joints.
DeHauwere RC, et al. Iris dysplasia, orbital hypertelorism, and psychomotor retardation: a dominantly inherited developmental syndrome. J Pediatr 1973; 82:679.
Rieger H. Beitrage zur Kenntnis seltener Missbildungen der Iris. Graefes Arch Ophthalmol 133:602, 1935.
McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.
Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.
von Noorden GK, Baller SR. The chamber angle in split-pupil. Arch Ophthalmol 1963; 70:598.
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