Sibs with mental retardation, supraorbital sclerosis, and metaphyseal dysplasia: frontometaphyseal dysplasia, craniometaphyseal dysplasia, or a new syndrome?
- 1 September 1991
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 28 (9) , 622-626
- https://doi.org/10.1136/jmg.28.9.622
Abstract
A brother and sister are presented with unusual facies, bilateral mixed hearing loss, mental retardation, and widespread radiological abnormalities. The clinical and radiological evidence for and against the two most likely diagnoses of frontometaphyseal dysplasia and craniometaphyseal dysplasia is considered.Keywords
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