Long-Term Follow-Up of a Case of Kyphomelic Dysplasia

Prenatal diagnosis of isolated femoral bent bone skeletal dysplasia: Problems in differential diagnosis and genetic counseling

“…Kyphomelic dysplasia is a rare, probably autosomal recessive skeletal dysplasia characterized principally by marked symmetric bowing and shortening of the femora, with relative sparing of the other long bones, and absence of other consistent dysmorphic features [Maclean et al, 1983]. Additional common features, among previously reported cases, include micrognathia, mild shortening with or without bowing of the remaining long bones, flared metaphyses, narrow chest, and an excess of affected males [Khajavi et al, 1976; Hall and Spranger, 1979; Maclean et al, 1983; Rezza et al, 1984; Viljoen and Beighton, 1988; Temple et al, 1989; Turnpenny et al, 1990, Maffulli et al, 1993; O'Reilly and Hall, 1994; Corder et al, 1995; Chen et al, 1998; Cisarik et al, 1999; Pollotta et al, 1999; Prasad et al, 2000; Guala et al, 2001]. Our case demonstrated most of the above features with the exception of narrow chest and obvious metaphyseal flaring.…”

Association of kyphomelic dysplasia with severe combined immunodeficiency

“…The prognosis for survival into childhood is fair. Maffulli et al [1993] and Temple et al [1989] reported 2 children with this disorder who had flattening and fragmentation of femoral capital epiphyses at 3 years of age. At 6 years of age one of the children had normal physical and mental development.…”

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.…”