A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature.

ABSTRACT:

Background

Stickler syndrome is a group of collagenopathies characterized by ophthalmic, skeletal, and orofacial abnormalities, with the degree of symptoms varying among patients. Mutations in the COL2A1, COL11A1, and COL11A2 procollagen genes cause Stickler syndrome. Marshall syndrome, caused by a COL11A1 mutation, has clinical overlap with Stickler syndrome.

Case presentation

A 2-year-old Japanese boy was presented to our hospital with short stature (79.1 cm, -2.52 standard deviation). His past medical history was significant for soft cleft palate and bilateral cataracts. He had a flat midface, micrognathia, and limitations in bilateral elbow flexion. Radiographs showed mild spondyloepiphyseal dysplasia. Initially, we suspected Marshall syndrome, but no mutation was identi

SUBMITTER: Higuchi Y 

PROVIDER: S-EPMC5574094 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature