A Canadian team reports the case of a skinny, short 27-year-old woman with a diminished head circumference, non-progressive proximal and distal muscle weakness, moderate intellectual impairment and oligomenorrhea.
- She also presented with facial paralysis, significant dysphagia and severe dysphonia, as well as elbow, knee and ankle retractions and long, thin, hyperlaxed fingers.
- From birth, there was hypotonia, difficulty suckling, hypoplasia of the lower jaw and club feet.
- She underwent scoliosis surgery at the age of 15, and her respiratory impairment requires nocturnal non-invasive ventilation.
- Genome analysis revealed a biallelic variant of the SOX8 gene, which encodes the SOX8 transcriptional regulator.
