Zespół zrostowy kręgosłupa, nadgarstka i śródstopia (rzadko rozpoznawany, nierzadko występujący)

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

Massive spinal-ischial dysplasia and extensive spinal dyssygmentation in a Tunisian child with severe form of Cleido- cranial dysplasia

Abstract Kyphoscoliosis is a complication of some bone dysplasias, including Cleido-cranial dysplasia (CCD). We report on massive spinal dysplasia secondary to severe spinal dyssygmentation associated with marked defective ossification of the ischium, detected in a Tunisian female child with a severe form of Cleido-cranial dysplasia. Literature review on Cleido cranial dysplasia and associated spinal abnormalities showed no previous similar reports as encountered in our patient