Duane anomaly, congenital myopathy and severe scoliosis in sibs: new AR syndrome?
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.
Verloes
Alain
A
Clinical Genetic Unit, Genetic Federation, Hôpital Robert Debré, 75019 Paris, France. Alain.Verloes@rdb.ap-hop-paris.fr
Misson
Jean-Paul
JP
Gillet
Philippe
P
Baumann
Clarisse
C
Spiritus
Micheline
M
Deprez
Manuel
M
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