Craniocleidodysostosis Syndrome
Craniocleidodysostosis Syndrome (Cleidocranial Dysostosis Syndrome; Marie-Sainton Syndrome; Scheuthaurer Syndrome; Hulkcrantz Anosteoplasia; Mutational Dysostosis Syndrome)
General: Autosomal dominant; hypoplastic dysostosis of the skull; shows brachycephaly or platycephaly.
Ocular: Proptosis (unilateral); prominent orbital ridges; greater vertical diameter of the orbit compared with horizontal diameter; hypertelorism; antimongoloid palpebral fissure.
Clinical: Saddle nose; prominent forehead (frontal bossing); hypoplasia of facial bones and clavicles; high arched palate and protruding jaw; oligodontia; pathologic fractures; hyperlaxia of joints; kyphoscoliosis and spina bifida; scoliosis; hemiplegia; spastic paraplegia; mental deficiency; psychosis; incomplete closure of fontanelles; dwarfism; epilepsy; hypoplasia/aplasia of nasal bones; high and narrow orbital opening; absent or diminished paranasal sinuses; small sella; skeletal immaturity due to defect in bone remodeling.
Gorlin RJ, Cervenka J. Syndrome of facial clefting. Scand J Plast Reconstr Surg 1974; 8: 13-25.
Jensen BL. Cleidocranial dysplasia: craniofacial morphology in adult patients. J Craniofac Genet Dev Biol 1994; 14: 163-176.
Marie P, Sainton P. Sur la Dysostose Cleido-Cranienne Hereditaire. Bull Soc Med Hop Paris 1898; 15:436.
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: http://www.ncbi.nlm.nih.gov/omim/.
General: Autosomal dominant; hypoplastic dysostosis of the skull; shows brachycephaly or platycephaly.
Ocular: Proptosis (unilateral); prominent orbital ridges; greater vertical diameter of the orbit compared with horizontal diameter; hypertelorism; antimongoloid palpebral fissure.
Clinical: Saddle nose; prominent forehead (frontal bossing); hypoplasia of facial bones and clavicles; high arched palate and protruding jaw; oligodontia; pathologic fractures; hyperlaxia of joints; kyphoscoliosis and spina bifida; scoliosis; hemiplegia; spastic paraplegia; mental deficiency; psychosis; incomplete closure of fontanelles; dwarfism; epilepsy; hypoplasia/aplasia of nasal bones; high and narrow orbital opening; absent or diminished paranasal sinuses; small sella; skeletal immaturity due to defect in bone remodeling.
Gorlin RJ, Cervenka J. Syndrome of facial clefting. Scand J Plast Reconstr Surg 1974; 8: 13-25.
Jensen BL. Cleidocranial dysplasia: craniofacial morphology in adult patients. J Craniofac Genet Dev Biol 1994; 14: 163-176.
Marie P, Sainton P. Sur la Dysostose Cleido-Cranienne Hereditaire. Bull Soc Med Hop Paris 1898; 15:436.
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: http://www.ncbi.nlm.nih.gov/omim/.
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