A three-year clinical investigation of a Chinese child with craniometaphyseal dysplasia caused by a mutated ANKH gene.

ABSTRACT:

Background

Craniometaphyseal dysplasia (CMD) is a rare genetic disorder. Autosomal dominant CMD (AD-CMD) is caused by mutations in the ANKH gene. Affected individuals typically have distinctive facial features including progressive thickening of the craniofacial bones. Treatment for AD-CMD primarily consists of surgical intervention to release compression of the cranial nerves and the brain stem/spinal cord. To alleviate progression of the clinical course and improve the quality of life in children waiting to undergo the necessary surgery, we investigated clinical changes in a diagnosed patient with AD-CMD over three years.

Case summary

A 17-mo-old boy presented with progressive nasal obstruction, snoring and hearing loss symptoms. Physical examination showed enlargem

SUBMITTER: Wu JL 

PROVIDER: S-EPMC7953411 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature