Duane anomaly, congenital myopathy and severe scoliosis in sibs: new AR syndrome?
(2003) Annales de génétique — Vol. 46, n° 4, p. 449-452 (2003)
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- We 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. (C) 2003 Editions scientifiques et medicales Elsevier SAS. All rights reserved.
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Verloes, A., Misson, JP., Gillet, P., Baumann, C., Spiritus, M., & Deprez, M. (2003). Duane anomaly, congenital myopathy and severe scoliosis in sibs: new AR syndrome? Annales de génétique, 46(4), 449-452. https://doi.org/10.1016/S0003-3995(03)00018-2 (Original work published 2003)