Open AccessA three-year clinical investigation of a Chinese child with craniometaphyseal dysplasia caused by a mutated ANKH gene
Author(s) -
Jiali Wu,
Xiaoli Li,
Shumei Chen,
Xiaoping Lan,
Jinjin Chen,
Xiaoyan Li,
Wei Wang
Publication year - 2021
Publication title -
world journal of clinical cases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.368
H-Index - 10
ISSN - 2307-8960
DOI - 10.12998/wjcc.v9.i8.1853
Subject(s) - medicine , dysplasia , genetics , gene , pathology , biology
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.