A Genotype-Phenotype Study of Multiple Hereditary Exostoses in Forty-Three Patients.

ABSTRACT: Multiple hereditary exostoses (MHE) is a rare autosomal dominant skeletal disorder with a variety of clinical manifestations. We aimed to evaluate the general clinical phenotypic severity of MHE using our own scoring system and analyzed the risk factors associated with severe clinical phenotypes. In this study, 43 patients from 30 families were analyzed. The mutations were identified by direct sequencing of polymerase chain reaction-amplified genomic DNA or by multiplex ligation-dependent probe amplification. According to a new scoring system devised by the authors, the severity of the phenotype was assessed as mild, moderate, or severe based on the deformity of each segment, number of exostoses, leg length discrepancy, and functional limitations. Of 43 patients from 30 families, 39 patien

SUBMITTER: Kim S 

PROVIDER: S-EPMC9267182 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature