Temporal aspects in craniometaphyseal dysplasia: autosomal recessive type

N Elçioglu; C M Hall

doi:10.1002/(sici)1096-8628(19980319)76:3<245::aid-ajmg8>3.0.co;2-p

Temporal aspects in craniometaphyseal dysplasia: autosomal recessive type

Am J Med Genet. 1998 Mar 19;76(3):245-51. doi: 10.1002/(sici)1096-8628(19980319)76:3<245::aid-ajmg8>3.0.co;2-p.

Authors

N Elçioglu¹, C M Hall

Affiliation

¹ Department of Medical Genetics, Cerrahpasa Medical School, Instanbul University, Turkey.

PMID: 9508244
DOI: 10.1002/(sici)1096-8628(19980319)76:3<245::aid-ajmg8>3.0.co;2-p

Abstract

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.

Publication types

Case Reports

MeSH terms

Adolescent
Bone Density
Craniofacial Abnormalities / complications
Craniofacial Abnormalities / diagnostic imaging
Craniofacial Abnormalities / genetics*
Hearing Loss, Bilateral / complications
Humans
Hypertelorism / diagnostic imaging
Male
Malocclusion / diagnostic imaging
Nerve Compression Syndromes / complications
Optic Nerve
Osteosclerosis / complications
Osteosclerosis / diagnostic imaging
Osteosclerosis / genetics*
Radiography