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Diseases

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C


C

C Syndrome (Opitz Trigonocephaly Syndrome; Trigonocephaly Syndrome)   &n 616c23g bsp;   &n 616c23g bsp;   &n 616c23g bsp;   &n 616c23g bsp;   &n 616c23g bsp;   &n 616c23g bsp;   &n 616c23g bsp;   &n 616c23g bsp;   &n 616c23g bsp; 184

General: Autosomal recessive; consanguinity; early death.

Ocular: Hypertelorism; up-slanted palpebral fissures; strabismus.

Clinical: Polydactyly; unusual facies; cardiac abnormality; cryptorchidism; Omtra-oral anomalies; abnormally modeled ears; cardiac anomalies; neonatal hypotonia; severe mental retardation; short neck with loose skin.

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/.

Opitz JM, et al. The C syndrome of multiple congenital anomalies. Birth Defects 1969; 12:161-l66.

Schaap C, et al. Opitz-C syndrome: on the nosology of mental retardation and trigonocephaly. Genet Couns 1992; 3: 209-215.

Zanini SA, et al. Trigonocephaly. J Craniofacial Surg 1992; 3:85-89.




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