Temporal aspects in craniometaphyseal dysplasia: autosomal recessive type. 1998

N Elçioglu, and C M Hall
Department of Medical Genetics, Cerrahpasa Medical School, Instanbul University, Turkey.

We present the clinical and radiographic findings in a patient with the autosomal recessive form of craniometaphyseal dysplasia (CMD). The changes from infancy to the age of 17 years are illustrated and discussed.

UI MeSH Term Description Entries
D006972 Hypertelorism Abnormal increase in the interorbital distance due to overdevelopment of the lesser wings of the sphenoid. Hypertelorisms
D008297 Male Males
D008310 Malocclusion Such malposition and contact of the maxillary and mandibular teeth as to interfere with the highest efficiency during the excursive movements of the jaw that are essential for mastication. (Jablonski, Illustrated Dictionary of Dentistry, 1982) Angle's Classification,Crossbite,Tooth Crowding,Cross Bite,Angle Classification,Angles Classification,Bite, Cross,Bites, Cross,Classification, Angle's,Cross Bites,Crossbites,Crowding, Tooth,Crowdings, Tooth,Malocclusions
D009408 Nerve Compression Syndromes Mechanical compression of nerves or nerve roots from internal or external causes. These may result in a conduction block to nerve impulses (due to MYELIN SHEATH dysfunction) or axonal loss. The nerve and nerve sheath injuries may be caused by ISCHEMIA; INFLAMMATION; or a direct mechanical effect. Entrapment Neuropathies,Nerve Entrapments,External Nerve Compression Syndromes,Internal Nerve Compression Syndromes,Nerve Compression Syndromes, External,Nerve Compression Syndromes, Internal,Compression Syndrome, Nerve,Compression Syndromes, Nerve,Entrapment, Nerve,Entrapments, Nerve,Nerve Compression Syndrome,Nerve Entrapment,Neuropathies, Entrapment,Neuropathy, Entrapment,Syndrome, Nerve Compression,Syndromes, Nerve Compression
D009900 Optic Nerve The 2nd cranial nerve which conveys visual information from the RETINA to the brain. The nerve carries the axons of the RETINAL GANGLION CELLS which sort at the OPTIC CHIASM and continue via the OPTIC TRACTS to the brain. The largest projection is to the lateral geniculate nuclei; other targets include the SUPERIOR COLLICULI and the SUPRACHIASMATIC NUCLEI. Though known as the second cranial nerve, it is considered part of the CENTRAL NERVOUS SYSTEM. Cranial Nerve II,Second Cranial Nerve,Nervus Opticus,Cranial Nerve, Second,Cranial Nerves, Second,Nerve, Optic,Nerve, Second Cranial,Nerves, Optic,Nerves, Second Cranial,Optic Nerves,Second Cranial Nerves
D010026 Osteosclerosis An abnormal hardening or increased density of bone tissue. Osteoscleroses
D011859 Radiography Examination of any part of the body for diagnostic purposes by means of X-RAYS or GAMMA RAYS, recording the image on a sensitized surface (such as photographic film). Radiology, Diagnostic X-Ray,Roentgenography,X-Ray, Diagnostic,Diagnostic X-Ray,Diagnostic X-Ray Radiology,X-Ray Radiology, Diagnostic,Diagnostic X Ray,Diagnostic X Ray Radiology,Diagnostic X-Rays,Radiology, Diagnostic X Ray,X Ray Radiology, Diagnostic,X Ray, Diagnostic,X-Rays, Diagnostic
D006312 Hearing Loss, Bilateral Partial hearing loss in both ears. Deafness Bilateral,Bilateral Deafness,Bilateral Hearing Loss,Bilateral Hearing Losses,Bilateral, Deafness,Bilaterals, Deafness,Deafness Bilaterals,Deafness, Bilateral,Loss, Bilateral Hearing
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths

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