Reference : Duane anomaly, congenital myopathy and severe scoliosis in sibs: new AR syndrome?
Scientific journals : Article
Human health sciences : Neurology
http://hdl.handle.net/2268/64375
Duane anomaly, congenital myopathy and severe scoliosis in sibs: new AR syndrome?
English
Verloes, Alain [Hôpital Robert Debré, 75019, Paris, France > Clinical Genetic Unit, Genetic Federation > > >]
Misson, Jean-Paul mailto [Université de Liège - ULg > Département des sciences cliniques > Pédiatrie >]
Gillet, Philippe mailto [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 - ULg > Département des sciences biomédicales et précliniques > Anatomie et cytologie pathologiques >]
2003
Annales de Génétique
Elsevier
46
4
449-52
Yes (verified by ORBi)
International
0003-3995
Amsterdam
The Netherlands
[en] Body Height ; Child ; Duane Retraction Syndrome/genetics/pathology ; Female ; Humans ; Muscle Hypotonia/genetics/pathology ; Scoliosis/genetics/pathology ; Siblings ; Syndrome
[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.
Researchers ; Professionals
http://hdl.handle.net/2268/64375

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