BACKGROUND CONTEXT Neurofibromatosis is an autosomal-dominant hereditary disorder with two subtypes: NF-1 (type I) and NF-2 (type II). NF-1 is a complex disorder with a constellation of manifestations that can also entail skeletal abnormalities, including spinal deformity of a noncongenital nature with early age onset. The short, sharp, angular curve usually present in the thoracic region, as e...

Cohen syndrome is a very rare disease. Complication by spinal deformity has been reported, but management and surgery for spinal deformity in Cohen syndrome has not been previously described. The objective of this study was to examine the outcome of surgical treatment for kyphoscoliosis of Cohen syndrome with a literature review. The patient was a 14-year-old male with the characteristics of Co...

Acute gastric volvulus is a life-threatening condition associated with abnormalities of the stomach, surrounding viscera or spatial anatomy such as hiatus hernia (Millar et al, 1991). Our report of gastric volvulus highlights an aetiological association with severe secondary kyphoscoliosis. As cerebral palsy is the commonest cause of physical disability in paediatric patients, with high surviva...

Patients with severe skeletal deformities are a challenging group to treat. A female, white, 35-year-old presented with right kidney stones located in renal pelvis, lower calyx, and upper ureter. She was affected by severe spinal deformity with restrictive respiratory obstruction, caused by kyphoscoliosis. Percutaneous nephrolithotomy in supine position was performed, achieving complete removal...

Beals syndrome or Congenital contractural arachnodactly (CCA) is an autosomal dominantly inherited connective tissue disorder caused by a mutation in FBN2 gene on chromosome 5q23 and is characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinna and muscular hypoplasia. Multiple joint contractures (especially finger joints), and crumpled ears in the abs...