Craniometaphyseal dysplasia in a 14-month old: a case report and review of imaging differential diagnosis

Craniometaphyseal dysplasia in a 14-month old: a case report and review of imaging differential diagnosis

We report a 14-month-old male with craniometaphyseal dysplasia (CMD). The patient presented with a history of diminishing vision and hearing loss. Cranial computed tomography scan showed diffuse calvarial and skull base hyperostosis with excessive bone narrowing the internal auditory canals and skul...

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Bibliographic Details
Main Authors: Sumit Singh, MD, Curtis Qin, MD, Srikanth Medarametla, MD, Shilpa V. Hegde, MBBS
Format: Article
Language:English
Published: Elsevier 2016-09-01
Series:Radiology Case Reports
Subjects:
craniotubular dysplasia
craniometaphyseal dysplasia
ANKH gene mutation
Erlenmeyer flask deformity
Online Access:http://www.sciencedirect.com/science/article/pii/S1930043316300553

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