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Three new cases of spondylocarpotarsal synostosis syndrome: Clinical and radiographic studies

✍ Scribed by Co�lho, K�tia-�dni F.A.; Ramos, Ester S.; Felix, Temis M.; Martelli, Lucia; de Pina-Neto, Jo�o M.; Niikawa, Norio

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 28 KB
Volume: 77
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980428)77:1<12::aid-ajmg3>3.0.co;2-n

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✦ Synopsis

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 autosomalrecessive disorder. Am.

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