Duane anomaly, congenital myopathy and severe scoliosis in sibs: new AR syndrome?

Abstract

We report on two sisters who show a similar pattern of anomalies consisting of bilateral Stilling–Türk–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.