title: Three new cases of spondylocarpotarsal synostosis syndrome: clinical and radiographic studies.
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.
authors.affiliation: Departamento de Genetica, Faculdade de Medicina de Ribeirao Preto, Universidade de Sao Paulo, Brazil.
authors.forename: K E
authors.initials: KE
authors.lastname: Coêlho
authors.forename: E S
authors.initials: ES
authors.lastname: Ramos
authors.forename: T M
authors.initials: TM
authors.lastname: Felix
authors.forename: L
authors.initials: L
authors.lastname: Martelli
authors.forename: J M
authors.initials: JM
authors.lastname: de Pina-Neto
authors.forename: N
authors.initials: N
authors.lastname: Niikawa
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D002348:Carpal Bones / Q000002:abnormalities / Q000000981:diagnostic imaging; D002648:Child; D002675:Child, Preschool; D005260:Female; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D010375:Pedigree; D011859:Radiography; D012600:Scoliosis / 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