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  • Title: Three new cases of spondylocarpotarsal synostosis syndrome: clinical and radiographic studies.
    Author: Coêlho KE, Ramos ES, Felix TM, Martelli L, de Pina-Neto JM, Niikawa N.
    Journal: Am J Med Genet; 1998 Apr 28; 77(1):12-5. PubMed ID: 9557886.
    Abstract:
    Spondylocarpotarsal synostosis syndrome (SSS) or congenital synspondylism is a recently delineated clinical entity. At least 15 patients have been reported. We present 3 new patients, 2 of whom were sibs born to first-cousin parents. All of our patients had multiple synostoses involving cervical, thoracic and/or lumbar vertebral bodies and carpal/tarsal bones, scoliosis/lordosis, and short stature. Sensorineural deafness was found in 2 of the 3 patients. Analysis of clinical manifestations suggests clinical variability and genetic heterogeneity in SSS. Of a total of 18 SSS patients, 10 were five pairs of sibs from five families, with first-cousin consanguinity of parents in 3, indicating that at least one type of SS is an autosomal-recessive disorder.
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