Spondylocarpotarsal synostosis syndrome (not rare but infrequently recognised syndrome)

Autor: Marik, Ivo, Al Kaissi, Ali, Chehida, Farid Ben, Safi, Hatem, Ghachem, Maher B, Masel, John, Kozlowski, Kazimierz
Jazyk: angličtina
Rok vydání: 2006
Předmět:
Popis: Spondylocarpotarsal synostosis syndrome - a rarely recognised entity - is characterised by malsegmentation of the spine and carpal/tarsal fusions (1,2,5-9). The main reason for the rarity of its diagnosis is that radiographs of the hands and feet are not routinely performed in children with scoliosis and/or kyphoscoliosis, and fusion of the carpal/tarsal bones may not be evident in preschool children. We report four patients with spondylocarpotarsal synostosis syndrome; the diagnosis in three of these was not made until radiographs of the hands were performed. The amount of scoliosis was much less evident in two of these patients (sibs) than in the others.
Databáze: OpenAIRE