Spondylocarpotarsal synostosis syndrome (with a posterior midline unsegmented bar).
Spondylocarpotarsal synostosis syndrome (SSS) is characterised by malsegmentation of the thoracic spine and carpal/tarsal fusions. A unilateral or bilateral unsegmented bar may be present in the thoracic spine. Presenting clinical signs are congenital scoliosis early in life, and shortening of the trunk with scoliosis and/or lordosis in older children. We report a 13-year-old girl with SSS and a midline unsegmented bar running along the spinal processes of T3 to L2 and extending into the posterior vertebral elements.
Al Kaissi
A
A
Service d'orthopedie infantile, Hospital d'Enfants, Tunis, Tunisia.
Ghachem
M Ben
MB
Nassib
N
N
Ben Chehida
F
F
Kozlowski
K
K
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000293:Adolescent; D002348:Carpal Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D003937:Diagnosis, Differential; D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D011859:Radiography; D035583:Rare Diseases; D012272:Ribs / Q000002:abnormalities / Q000000981:diagnostic imaging; D012600:Scoliosis / Q000151:congenital / Q000175:diagnosis* / Q000235:genetics; D013131:Spine / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013577:Syndrome; D013580:Synostosis / Q000175:diagnosis* / Q000235:genetics; D013639:Tarsal Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging