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

Sumit Singh; Curtis Qin; Srikanth Medarametla; Shilpa V. Hegde

doi:10.1016/j.radcr.2016.04.006

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

Sumit Singh, Curtis Qin, Srikanth Medarametla, Shilpa V. Hegde

Research output: Contribution to journal › Article › peer-review

8 Scopus citations

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.

Original language	English (US)
Pages (from-to)	260-265
Number of pages	6
Journal	Radiology Case Reports
Volume	11
Issue number	3
DOIs	https://doi.org/10.1016/j.radcr.2016.04.006
State	Published - Sep 1 2016
Externally published	Yes

Keywords

ANKH gene mutation
Erlenmeyer flask deformity
craniometaphyseal dysplasia
craniotubular dysplasia

ASJC Scopus subject areas

Radiology Nuclear Medicine and imaging

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10.1016/j.radcr.2016.04.006

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title = "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.",

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AU - Qin, Curtis

AU - Medarametla, Srikanth

AU - Hegde, Shilpa V.

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AB - 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.

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

Abstract

Keywords

ASJC Scopus subject areas

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