Facio-Oculo-Acoustico-Renal Syndrome
General: Autosomal recessive.
Ocular: Congenital myopia; undeveloped filtration angle; persistent pupillary remnant membrane; hypertelorism; dysplasia carthonum; antimongoloid obliquity of palpebral fissure.
Clinical: Large head; sensorineural hearing loss; proteinuria; epiphyseal dysplasia of the femoral heads.
Fraser GR. The causes of profound deafness in childhood. A study of 3535 individuals with severe auditory handicaps present at birth or of childhood onset. Baltimore: The Johns Hopkins University Press, 1976.
Holmes LB, Schepens LC. Syndrome of facial anomalies, telecanthus and deafness. J Pediatr 1972; 81:552-555.
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/.
Murdock JL, Mengel MC. An unusual eye-ear syndrome with renal anomaly. Birth Defects 1971; 7:136.
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