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Craniosynostosis-mental retardation-clefting syndrome    318


Craniosynostosis-Mental Retardation-Clefting Syndrome& 111d31b nbsp;   & 111d31b nbsp;   & 111d31b nbsp;   & 111d31b nbsp;   & 111d31b nbsp;   & 111d31b nbsp;   & 111d31b nbsp;   & 111d31b nbsp;   & 111d31b nbsp;   & 111d31b nbsp;   & 111d31b nbsp;   & 111d31b nbsp;   & 111d31b nbsp;   & 111d31b nbsp;   & 111d31b nbsp;   & 111d31b nbsp;   318

General: Autosomal recessive.

Ocular: Choroidal coloboma.

Clinical: Craniosynostosis; mental retardation; seizures; dysplastic kidneys; bat ears; cleft lip and palate; beaked nose; small posterior fontanelle.



Baraitser M, et al. A new craniosynostosis-mental retardation syndrome. Clin Genet 1982; 22:12-l5.

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/.




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