Morquio-B disease: Clinical and genetic characteristics of a distinct GLB1-related dysostosis multiplex.

ABSTRACT:

Background

Morquio-B disease (MBD) is a distinct GLB1-related dysostosis multiplex involving the trabecular parts of long bones and spine, presenting a mild phenocopy of GALNS-related Morquio-A disease.

Methods

We analyzed 63 (n = 62 published) cases with MBD to describe their clinical, biochemical and genetic features.

Results

Forty-one of 51 cases with informative clinical data had pure MBD including progressive growth impairment, kyphoscoliosis, coxa/genua valga, joint laxity, platyspondyly, odontoid hypoplasia. Ten of 51 had MBD plus neuronopathic manifestations including intellectual/developmental/speech delay, spasticity, ataxia dystonia. Corneal clouding, cardiac valve pathology, hepatosplenomegaly, spinal cord compression were infre

SUBMITTER: Abumansour IS 

PROVIDER: S-EPMC7012745 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature