THIS REPORT was prompted by the discovery of a patient with an unknown osseous dysplasia. We have chosen the name frontometaphyseal dysplasia to designate this new syndrome of multiple bony defects which is apparently distinct from Pyle's disease, craniometaphyseal dysplasia, craniodiaphyseal dysplasia, and osteopetrosis.
Report of a Case
A 19-year-old white male patient was admitted for cardiac evaluation (Fig 1). On admission, he was noted to have multiple skeletal anomalies. The patient's father, mother, sister, and two brothers were normal. Consanguinity was denied. The patient was known to have a heart murmur since birth. Five years before admission, increased fatigability and exertional dyspnea were noted. Past history indicated that the patient had a 50% to 60% hearing loss bilaterally.Physical examination revealed a well-nourished boy with a marked supraorbital ridge, slight facial asymmetry, wide nasal bridge, mild antimongoloid obliquity, hirsutism above the eyebrows, and a small pointed chin (Fig 2).
Gorlin RJ, Cohen MM. Frontometaphyseal Dysplasia: A New Syndrome. Am J Dis Child. 1969;118(3):487–494. doi:10.1001/archpedi.1969.02100040489014
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: