Frontometaphyseal Dysplasia

Abstract

THIS REPORT was prompted by the discovery of a patient with an unknown osseous dysplasia. We have chosen the namefrontometaphyseal dysplasiato 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).