title: 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.
authors.affiliation: Clinical Genetic Unit, Genetic Federation, Hôpital Robert Debré, 75019 Paris, France. Alain.Verloes@rdb.ap-hop-paris.fr
authors.forename: Alain
authors.initials: A
authors.lastname: Verloes
authors.forename: Jean-Paul
authors.initials: JP
authors.lastname: Misson
authors.forename: Philippe
authors.initials: P
authors.lastname: Gillet
authors.forename: Clarisse
authors.initials: C
authors.lastname: Baumann
authors.forename: Micheline
authors.initials: M
authors.lastname: Spiritus
authors.forename: Manuel
authors.initials: M
authors.lastname: Deprez
mesh_terms: D001827:Body Height; D002648:Child; D004370:Duane Retraction Syndrome / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D009123:Muscle Hypotonia / Q000235:genetics* / Q000473:pathology; D012600:Scoliosis / Q000235:genetics* / Q000473:pathology; D035781:Siblings; D013577:Syndrome