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

ABSTRACT: 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.

SUBMITTER: Singh S

PROVIDER: S-EPMC4996902 | biostudies-literature | 2016 Sep

REPOSITORIES: biostudies-literature

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

Singh Sumit S Qin Curtis C Medarametla Srikanth S Hegde Shilpa V SV

Radiology case reports 20160520 3

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 b ...[more]

PMID: 27594963

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