Corder W T, Hummel M, Miller C, Wilson N W
Sections of Pediatric Allergy and Immunology, West Virginia University, Morgantown 26505, USA.
Am J Med Genet. 1995 Jul 17;57(4):626-9. doi: 10.1002/ajmg.1320570422.
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.
脊柱后凸肢体发育不良是一种独特的、罕见的骨骼发育不良，其特征为股骨短且成角、长骨弯曲、肋骨短、胸廓狭窄以及干骺端异常。虽然免疫缺陷在其他身材矮小/肢体短小的骨骼发育不良和软骨毛发发育不全中会出现，但尚未见其与脊柱后凸肢体发育不良相关的报道。我们报告了一名患有这种疾病的婴儿，其具有与严重联合免疫缺陷（SCID）一致的严重体液和细胞免疫异常。该婴儿在2个月大时死于严重的巨细胞病毒肺炎。与其他身材矮小/肢体短小的骨骼发育不良一样，脊柱后凸肢体发育不良可能与免疫缺陷相关，当确诊这种疾病时应调查免疫功能。
