cleidocranial dysplasia

clei·do·cra·ni·al dys·os·to·sis

, clidocranial dysostosis [MIM*119600] a developmental disorder characterized by absence or hypoplasia of clavicles, box-shaped cranium with open sutures, frontal bossing, sutural bones, ability to oppose shoulders, and missing teeth; autosomal dominant inheritance, caused by mutation in the transcription factor gene (CBFA1) encoding core-binding factor, runt domain, alpha-subunit 1 on 6p. There is an autosomal recessive form [MIM*216330]. Synonym(s): cleidocranial dysplasia, clidocranial dysplasia, craniocleidodysostosis

Marie,

Pierre, French neurologist, 1853-1940. Bamberger-Marie disease - Synonym(s): Bamberger-Marie syndromeBamberger-Marie syndrome - see under Bamberger, EugenBrissaud-Marie syndrome - see under BrissaudCharcot-Marie-Tooth disease - see under CharcotDebré-Marie syndrome - see under DebréFoix-Cavany-Marie syndrome - see under FoixMarie ataxia - obsolete term for a variety of non-Friedreich hereditary ataxias.Marie-Leri syndrome - swelling of deformed joints.Marie-Sainton syndrome - excessive head development. Synonym(s): cleidocranial dysplasia; cleidocranial dysostosisMarie-Strümpell disease - Synonym(s): Strümpell-Marie diseaseMarie I syndrome - Synonym(s): Menzel syndromeMarie II syndrome - endocrine and neurologic disorders.Nonne-Marie syndrome - Synonym(s): Menzel syndromeStrümpell-Marie disease - see under Strümpell

单词	cleidocranial dysplasia
释义	DictionarySeedysplasiaEncyclopediaSeecleidocranial dysostosis cleidocranial dysplasia clei·do·cra·ni·al dys·os·to·sis , clidocranial dysostosis [MIM119600] a developmental disorder characterized by absence or hypoplasia of clavicles, box-shaped cranium with open sutures, frontal bossing, sutural bones, ability to oppose shoulders, and missing teeth; autosomal dominant inheritance, caused by mutation in the transcription factor gene (CBFA1) encoding core-binding factor, runt domain, alpha-subunit 1 on 6p. There is an autosomal recessive form [MIM216330]. Synonym(s): cleidocranial dysplasia, clidocranial dysplasia, craniocleidodysostosis Marie, Pierre, French neurologist, 1853-1940. Bamberger-Marie disease - Synonym(s): Bamberger-Marie syndromeBamberger-Marie syndrome - see under Bamberger, EugenBrissaud-Marie syndrome - see under BrissaudCharcot-Marie-Tooth disease - see under CharcotDebré-Marie syndrome - see under DebréFoix-Cavany-Marie syndrome - see under FoixMarie ataxia - obsolete term for a variety of non-Friedreich hereditary ataxias.Marie-Leri syndrome - swelling of deformed joints.Marie-Sainton syndrome - excessive head development. Synonym(s): cleidocranial dysplasia; cleidocranial dysostosisMarie-Strümpell disease - Synonym(s): Strümpell-Marie diseaseMarie I syndrome - Synonym(s): Menzel syndromeMarie II syndrome - endocrine and neurologic disorders.Nonne-Marie syndrome - Synonym(s): Menzel syndromeStrümpell-Marie disease - see under Strümpell See CLCD See CCD
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