[en] 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.
Disciplines :
Neurology
Author, co-author :
Verloes, Alain; Hôpital Robert Debré, 75019, Paris, France > Clinical Genetic Unit, Genetic Federation
Misson, Jean-Paul ; Université de Liège - ULiège > Département des sciences cliniques > Pédiatrie
Gillet, Philippe ; Centre Hospitalier Universitaire de Liège - CHU > Chirurgie appareil locomoteur
Baumann, Clarisse; Centre Hospitalier Universitaire de Liège - CHU > Laboratory of Neuropathology
Spiritus, Micheline; Louvain Catholic University, St. Luc University Clinics, Brussels, Belgium > Department of Ophthalmology
Deprez, Manuel ; Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Anatomie et cytologie pathologiques
Language :
English
Title :
Duane anomaly, congenital myopathy and severe scoliosis in sibs: new AR syndrome?
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