Frontometaphyseal dysplasia. A new syndrome

Gorlin, R.J.; Cohen, M.M.

American Journal of Diseases of Children 118(3): 487-494

1969


ISSN/ISBN: 0002-922X
PMID: 5807657
Document Number: 5327
A new syndrome which the authors have chosen to designate frontometaphyseal dysplasia is presented which has as its most striking feature, a pronounced bony supraorbital ridge. Other alterations include "Hershey kiss" alterations of the supraorbital rims, agenesis of frontal sinuses, hirsutism, lack of modeling of the metaphyses of long bones, severe antegonial notching of the mandible, iliac flare, and conductive deafness. The inheritance pattern, if any, is not known. The authors contrast frontometaphyseal dysplasia with Pyle's disease, craniometaphyseal dysplasia, craniodiaphyseal dysplasia, and osteopetrosis.

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Frontometaphyseal dysplasia. A new syndrome