3 NEW CASES OF SPONDYLOCARPOTARSAL-SYNOSTOSIS-SYNDROME - CLINICAL ANDRADIOGRAPHIC STUDIES

Spondylocarpotarsal synostosis syndrome (SSS) or congenital synspondyl ism is a recently delineated clinical entity, At least 15 patients hav e been reported, We present 3 new patients, 2 of whom were sibs born t o first-cousin parents, All of our patients had multiple synostoses in volving cervical, thoracic and/or lumbar vertebral bodies and carpal/t arsal bones, scoliosis/lordosis, and short stature, Sensorineural deaf ness was found in 2 of the 3 patients, Analysis of clinical manifestat ions suggests clinical variability and genetic heterogeneity in SSS, O f a total of 18 SSS patients, 10 were five pairs of sibs from five fam ilies, with first-cousin consanguinity of parents in 3, indicating tha t at least one type of SS is an autosomal-recessive disorder. (C) 1998 Wiley-Liss, Inc.