Branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging    172

General: Autosomal dominant.

Ocular: Strabismus; obstructed nasolacrimal ducts.

Clinical: Low birth weight; retarded growth; bilateral bronchial cleft sinuses; broad nasal bridge; protruding upper lip; carp mouth; premature aging; malformed ears; linear skin lesions behind the ears.

Fujimoto A, et al. New autosomal dominant branchiooculofacial syndrome. Am J Med Genet 1987; 27:943-951.

Lee WK., et al. Bilateral branchial cleft sinuses associated with intrauterine and postnatal growth retardation, premature aging, and unusual facial appearance: a new syndrome with dominant transmission. Am J Med Genet 1982; 11: 345-352.

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/.