Natural history of Myhre syndrome.

ABSTRACT:

Background

Myhre syndrome (MS) is a rare genetic disease characterized by skeletal disorders, facial features and joint limitation, caused by a gain of function mutation in SMAD4 gene. The natural history of MS remains incompletely understood.

Methods

We recruited in a longitudinal retrospective study patients with molecular confirmed MS from the French reference center for rare skeletal dysplasia. We described natural history by chaining data from medical reports, clinical data warehouse, medical imaging and photographies.

Results

We included 12 patients. The median age was 22 years old (y/o). Intrauterine and postnatal growth retardation were consistently reported. In preschool age, neurodevelopment disorders were reported in 80% of children. Specifics facial and sk

SUBMITTER: Yang DD 

PROVIDER: S-EPMC9338657 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature