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Case Reports
. 1993 Feb;37(1):122-5.
doi: 10.1111/j.1440-1673.1993.tb00032.x.

Cranio-metaphyseal dysplasia

D Gupta  1 , O P Sharma, A K Chaudhary, S K Gupta
Affiliations
Case Reports

Cranio-metaphyseal dysplasia

D Gupta et al. Australas Radiol. 1993 Feb.

Abstract

Cranio-metaphyseal dysplasia in two brothers, aged fourteen and twelve, is reported. Both brothers presented with deafness, repeated episodes of cold and cough and mouth breathing. Striking craniofacial configuration consisted of hypertelorism, prominent glabella and zygomatic arches, mandibular prognathism and overgrowth of middle third of face. Both patients had genu valgum deformity. Low intelligence and poor scholastic performance present in both brothers were attributed to deafness. Radiographic features consisted of obtuse mandibular angle, defective dentition, sclerotic frontal sinuses, sclerotic mastoids and temporal bones. Splaying of metaphyses of long bones was associated with mild sclerosis. Mild degree of widening of ribs was also present. One brother also had hallux valgus deformity. The radiographic and clinical differentiation of cranio-metaphyseal dysplasia and metaphyseal dysplasia (Pyle's disease) is highlighted.

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