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

By Alain Verloes, Jean-Paul Misson, Philippe Gillet, Clarisse Baumann, Micheline Spiritus and Manuel Deprez


peer reviewedaudience: researcher, professionalWe 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

Topics: 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
Publisher: 'Elsevier BV'
Year: 2003
DOI identifier: 10.1016/S0003-3995(03)00018-2
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