Spondylocarpotarsal synostosis syndrome (with a posterior midline unsegmented bar)

Abstract

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.

Unusual facies, thumb hypoplasia, distinctive spinal fusions and extraspinal mobility limitation, in a pair of monozygotic twins

“…Note the thick, dense hair, pterygium colli and the elevated scapulae. Al Kaissi et al, 2005). One form of spinal fusion/joint immobility occurs in the multiple synostosis syndrome (Herrmann 1974).…”

Tomographic assessment of the spine in children with spondylocostal dysotosis syndrome

“…A unilateral failure of segmentation of two or more vertebrae results in a unilateral unsegmented bar, which is one of the most common causes of congenital scoliosis. This type of anomaly consists of a bar of bone fusing the disc spaces and facet joints on one side of the spine while leaving the other side relatively unaffected 6,7,22,23. …”

Spondylocarpotarsal synostosis syndrome. A rare case of short stature and congenital scoliosis

“…Hence a simple inexpensive skeletal survey is crucial for diagnosis. The most common isolated carpal fusion include capitate/hamate and lunate/triquetrum (5). Similarly, the most common tarsal fusion include talocalcaneal and calcaneo-navicular (5, 6).…”

“…Other reported anomalies include elbow joint mobility limitation, brachydactyly, club foot, cleft palate, hearing loss, high arched palate, kidney anomalies, inguinal hernia and dentition defect (4). The main differential of diagnosis of SCT include Spondylocostal dysplasia (STD), Ischiovertebral dysplasias (IVD), Cerebro facio thoracic dysplasia (CFTD), Robinow syndrome(RS) and other rare syndromes (4,5).These group of disorders usually present with variable vertebral anomalies (block vertebrae, hemi vertebrae, butterfly vertebrae) and severe rib changes (missing, bifid, fused) (5). The presence of carpotarsal synostosis clinches the diagnosis in favor of SCT.…”