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defective ossification; a defect in the normal ossification of fetal cartilages.
cleidocranial dysostosis an autosomal dominant condition in which there is defective ossification of the cranial bones, complete or partial absence of the clavicles, so that the shoulders may be brought together, or nearly together, in front, and dental and vertebral anomalies. See illustration.
craniofacial dysostosis an autosomal dominant condition marked by a pointed or conical skull, protruding wide-set eyes, strabismus, parrot-beaked nose, and hypoplastic maxilla with relative mandibular prognathism. Called also Crouzon's disease.
mandibulofacial dysostosis a hereditary disorder occurring in two different forms: the complete form is Franceschetti syndrome and the incomplete form is Treacher Collins syndrome. Persons with the condition have downslanting eyes (antimongoloid palpebral fissures); absence of all or part of the lower lid; underdeveloped cheekbones that appear depressed; a prominent nose, wide mouth, and small receding chin; underdeveloped, malformed, or prominent ears; and small tufts of hair in front of the ears. There is often, but not always, some degree of hearing loss, usually conductive.
metaphyseal dysostosis a skeletal abnormality in which the epiphyses are normal or nearly so, and the metaphyseal tissues are replaced by masses of cartilage, producing interference with endochondral bone formation and expansion and thinning of the metaphyseal cortices.
orodigitofacial dysostosis orofaciodigital syndrome.
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].
cleidocranial dysostosisCleidocranial dysplasia Pediatrics An AD condition characterized by partial or complete absence of clavicle, dental defects, joint laxity and a facies–heavy brow, protruding jaw, wide nasal nasal bridge, malaligned teeth, characteristic facies–frontal bossing
cleidocranial dysostosisA congenital disorder featuring defective bone formation in the collar bones (clavicles) and the skull.
Marie,Pierre, French neurologist, 1853-1940.
Bamberger-Marie disease - Synonym(s): Bamberger-Marie syndrome
Bamberger-Marie syndrome - see under Bamberger, Eugen
Brissaud-Marie syndrome - see under Brissaud
Charcot-Marie-Tooth disease - see under Charcot
Debré-Marie syndrome - see under Debré
Foix-Cavany-Marie syndrome - see under Foix
Marie 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 dysostosis
Marie-Strümpell disease - Synonym(s): Strümpell-Marie disease
Marie I syndrome - Synonym(s): Menzel syndrome
Marie II syndrome - endocrine and neurologic disorders.
Nonne-Marie syndrome - Synonym(s): Menzel syndrome
Strümpell-Marie disease - see under Strümpell
clei·do·cra·ni·al dys·o·sto·sis, clidocranial dysostosis (klīdō-krānē-ăl dis-os-tōsis) [MIM*119600]
Developmental disorder characterized by absence or hypoplasia of clavicles, box-shaped cranium with open sutures, frontal bossing and missing teeth.