Familial congenital bowing with short thick bones and metaphyseal changes, a distinct entity

Stüve-Wiedemann dysplasia in a 3 1/2-year-old boy

“…Differential diagnosis with other long bone bowing syndromes, especially rickets and related disorders, should cause no problem: their clinical, radiographic and biochemical aspects are so different that they should not be confused with SW dysplasia [Kozlowski et al, 1978;Rezza et al, 1984;Hall and Spranger, 19801. The metaphyses were wide, of decreased transradiancy with ab- bowing.…”

Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene

“…Twenty-one cases have been reported in the literature. [1][2][3][4][5][6][7][8][9][10][11][12][13][14] However the diagnosis in several cases from the literature has been disputed. The case described by Maclean and co-workers 10 was reported recently to have Schwartz-Jampel syndrome, 15 and the family reported by Toledo et al 5 in fact had osteogenesis imperfecta.…”

Kyphomelic dysplasia.

“…Since then, eight cases of this rare, generalised skeletal dysplasia have been reported including two pairs of sibs. [2][3][4][5] It is thought to be autosomal recessively inherited. We report a further case to help delineate the features and natural history of the syndrome over three years.…”