Duane anomaly, congenital myopathy and severe scoliosis in sibs: new AR syndrome?
Abstract
peer reviewedWe report on two sisters who show a similar pattern of anomalies consisting of bilateral Stilling-Turk-Duane retraction syndrome (type 3), non-progressive hypotonia with delayed motor milestones but normal intelligence, severe, early onset scoliosis, and short stature. Muscular biopsy revealed numerous regenerating fibers, but no specific abnormalities among the non-regenerating fibers. This combination of anomalies has not been previously reported, and could represent a new autosomal recessive syndrome. The only differential diagnosis is Crisfield-Dretakis-Sharpe syndrome, a combination of lateral gaze palsy, ptosis, and scoliosis without hypotonia, recessively inherited- journal article
- http://purl.org/coar/resource_type/c_6501
- info:eu-repo/semantics/article
- peer reviewed
- Body Height
- Child
- Duane Retraction Syndrome/genetics/pathology
- Female
- Humans
- Muscle Hypotonia/genetics/pathology
- Scoliosis/genetics/pathology
- Siblings
- Syndrome
- Human health sciences
- Neurology
- Sciences de la santé humaine
- Neurologie