Turnpenny P D, Dakwar R A, Boulos F N
Paediatric Department, Nazareth Hospital, EMMS, Israel.
J Med Genet. 1990 Apr;27(4):269-72. doi: 10.1136/jmg.27.4.269.
We report two sibs, the ninth and tenth cases of a distinctive familial skeletal dysplasia. Designated kyphomelic dysplasia, the condition is a short limbed dwarfism characterised by very short angulated femora, variable bowing of other long bones, irregular, flared metaphyses, restricted joint mobility, a small thorax and short trunk, a normal cranium and psychomotor development, and a tendency for the bowing to improve with age in survivors. The first born of our cases died of pneumonia at 2 1/2 months of age and is known to us by radiographs only. The second case was under our care from birth. He died aged 13 months after developing a pure red cell aplasia in the second half of infancy, which spontaneously recovered about the time of onset of his final illness. These cases are discussed in relation to previous reports.
我们报告了两名患有一种独特的家族性骨骼发育不良的兄弟姐妹，这是该病症的第九和第十个病例。这种病症被命名为脊柱后凸肢体发育不良，是一种短肢侏儒症，其特征为股骨非常短且呈角状，其他长骨有不同程度的弯曲，干骺端不规则且增宽，关节活动受限，胸廓小且躯干短，颅骨和精神运动发育正常，并且存活者的弯曲有随年龄增长而改善的趋势。我们的第一个病例是头胎，在2个半月大时死于肺炎，我们仅通过X光片了解到该病例情况。第二个病例从出生起就在我们的照料下。他在婴儿期后半段患上纯红细胞再生障碍性贫血，13个月大时死亡，该病症在他最终患病时自发恢复。将结合之前的报告对这些病例进行讨论。
