Mentions: A seven year old male child was referred to the Radiology department of Saveetha Medical College and Hospital, Thandalam, Kanchipuram, India in January 2014, for evaluation of abnormal facies and gradually increasing bilateral nasal block for the last two years. According to parents, perinatal period was uneventful. The child was normal till six months of age, after which facial deformity started appearing. Examination showed prominent forehead, wide set eyes and broad nasal root (Fig. 1A). X-rays and computed tomography (CT) of skull showed marked thickening and sclerosis of all craniofacial bones (Figs 1B, 1C, 2) with dolichocephalic shape of skull. Marked compromise of bilateral nasal cavities was noted due to thickening of nasal bones, nasal septum and wall of paranasal sinuses (Fig. 2). X-rays of bilateral femur showed widened metaphysis with Erlenmeyer flask deformity (Fig. 3). All laboratory investigations were within normal limits except for increase in serum alkaline phosphatase (399 IU/l). Diagnosis of craniometaphyseal dysplasia was made. Surgical correction for bilateral nasal block was advised, however, his parents refused. The patient is being managed conservatively with low calcium diet and calcitriol. There has been no progression of his symptoms till six months of follow up.
Affiliation: Department of Radiodiagnosis & Imaging, Saveetha Medical College & Hospital, Thandalam, Kanchipuram 602105, Tamil Nadu, India.
No MeSH data available.