A case of spondylocostal dysostosis with a fra (5) (q32).
Spondylocostal dysostosis is a rare hereditary syndrome with various costal and vertebral deformities. No chromosomal abnormalities in connection with this syndrome were previously reported in literature. We report a case with spondylocostal dysostosis and chromosomal abnormality [fra (5) (q32)].
Satar
M
M
Department of Pediatrics, Cukurova University Faculty of Medicine, Adana, Turkey.
Temoçin
A K
AK
Atici
A
A
Demirhan
O
O
D002873:Chromosome Fragility; D002895:Chromosomes, Human, Pair 5; D004413:Dysostoses / Q000151:congenital / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D012272:Ribs / Q000002:abnormalities*; D013131:Spine / Q000002:abnormalities*; D013577:Syndrome