Progressive facial disfigurement and deafness in craniometaphyseal dysplasia
1 Department of Radiodiagnosis, Medical College, Calicut, Kerala, India
2 Department of Pediatrics, Medical College, Calicut, Kerala, India
A 12-year-old boy born of a second degree consanguineous marriage was evaluated for frequent episodes of rhinitis and progressively worsening disfigurement of face from the age of seven years. He had a head circumference of 55.7 cm with hypertelorism, left convergent squint and a small nose, with normal intelligence. A thick bony wedge was present over the nasal bridge and his malar bones were unusually prominent [Figure - 1]. Radiograph of skull showed diffuse hyperostosis and decreased pneumatisation of paranasal bones. A lateral skull scanogram revealed thick calvarium, dense facial bones, hyperostosis of the base of the cranial vault and increased density of the mandible [Figure - 2] Narrowing of the skull base foramina was noted on CT scan of head. Metaphyseal broadening with diaphyseal sclerosis and Erlenmeyer flask deformity were evident on radiographs of hands and knees respectively [Figure - 3]. A pure tone audiometry revealed bilateral mild sensorineural hearing loss. The findings were typical of craniometaphyseal dysplasia (CMD). The basic underlying defects are cranial dysplasia and abnormal modeling of long bones. A review of available family photographs did not show any family member with similar features. The boy reported here had all the typical features with radiological evidence of limb anomalies.(Vasu CK, Rajendran VR, Regi George AN, A)
2 Department of Pediatrics, Medical College, Calicut, Kerala, India
A 12-year-old boy born of a second degree consanguineous marriage was evaluated for frequent episodes of rhinitis and progressively worsening disfigurement of face from the age of seven years. He had a head circumference of 55.7 cm with hypertelorism, left convergent squint and a small nose, with normal intelligence. A thick bony wedge was present over the nasal bridge and his malar bones were unusually prominent [Figure - 1]. Radiograph of skull showed diffuse hyperostosis and decreased pneumatisation of paranasal bones. A lateral skull scanogram revealed thick calvarium, dense facial bones, hyperostosis of the base of the cranial vault and increased density of the mandible [Figure - 2] Narrowing of the skull base foramina was noted on CT scan of head. Metaphyseal broadening with diaphyseal sclerosis and Erlenmeyer flask deformity were evident on radiographs of hands and knees respectively [Figure - 3]. A pure tone audiometry revealed bilateral mild sensorineural hearing loss. The findings were typical of craniometaphyseal dysplasia (CMD). The basic underlying defects are cranial dysplasia and abnormal modeling of long bones. A review of available family photographs did not show any family member with similar features. The boy reported here had all the typical features with radiological evidence of limb anomalies.(Vasu CK, Rajendran VR, Regi George AN, A)