PubMed · 7700714
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R J Gorlin. 1994. Craniotubular bone disorders.. https://doi.org/10.1007/bf02011904
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Kyphomelic dysplasia is a distinct, rare, skeletal dysplasia with short angulated femora, bowing of long bones, short ribs, narrow thorax, and metaphyseal abnormalities. While immune deficiency occurs in other short stature/short-limb skeletal dysplasias and cartilage-hair hypoplasia, it has not been described with kyphomelic dysplasia. We report on an infant with this disorder who had profound humoral and cellular immunologic abnormalities consistent with severe combined immune deficiency (SCID). The infant died at age 2 months of overwhelming cytomegalovirus pneumonia. Kyphomelic dysplasia, as with other short stature/short-limb skeletal dysplasias, can be associated with immune deficiency and immune function should be investigated when this disorder is identified.
To evaluate the information obtained by magnetic resonance (MR) imaging, the radiographic and MR investigations of nine patients treated for idiopathic tibia vara were reviewed in retrospect. There were six unilateral and three bilateral cases (12 tibiae). Initial radiographs of each patient were assigned a stage according to Catonné's classification. MR imaging was performed with a 0.5- or 1.5-T apparatus. Bony epiphyses were poorly developed in all cases. The cartilaginous component of the epiphyses compensated partially (6/12 cases) or completely (6/12 cases) for the collapse of the physes. In two cases an abnormal area was found between the medial meniscus and the cartilaginous portion of the epiphysis. An abnormally large medial meniscus was noted in four cases; an abnormal signal in the medial meniscus was seen in two cases. MR imaging has several advantages over plain film: it uses no ionizing radiation, it shows the shape of the ossified and cartilaginous epiphysis, and it demonstrates meniscal and physeal abnormalities. MR imaging may influence the choice of treatment.