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

Developmental Biology

Sumit Singh²  Srikanth Medarametla¹  Shilpa V. Hegde³  Curtis Qin⁴ 

[1]Department of Radiology, University of Arkansas for Medical Sciences, Little Rock, AR, USA$$

[2]Section of Pediatric Radiology, King Abdullah Specialist Children's Hospital, National Guard Health Affairs, King Abdulaziz Medical City, P.O. Box 22490, Riyadh 11426, Kingdom of Saudi Arabia$$

[3]Section of Neuroradiology, University of Pittsburgh Medical Centre, Pittsburgh, PA, USA$$

[4]Division of Radiology, Georgetown University Hospital, Washington, D.C., USA$$

关键词: craniotubular dysplasia;    craniometaphyseal dysplasia;    ANKH gene mutation;    Erlenmeyer flask deformity;   

DOI  :  10.1016/j.radcr.2016.04.006

学科分类：医学（综合）

来源: University of Washington * Department of Radiology

【 摘 要 】

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 skull base foramina. A subsequent skeletal survey revealed other skeletal abnormalities, which led to the diagnosis of CMD. This was later confirmed by ANKH mutation. CMD is a rare genetic disorder that belongs to the group of craniotubular bone dysplasias. It is important to recognize this condition from other causes of craniotubular bone dysplasias to institute early treatment and explain prognosis.

【 授权许可】

Unknown