Camera Andrea, Camera Gianni
Department of Orthopedics and Traumatology, Santa Corona Hospital, Pietra Ligure, Savona, Italy.
Am J Med Genet A. 2003 Oct 1;122A(2):159-63. doi: 10.1002/ajmg.a.20222.
Metaphyseal chondrodysplasias (MCD) are skeletal disorders characterized by metaphyseal irregularities and, usually, by short stature. In MCD, wide heterogeneity exists with regard to clinical and radiological changes. We report on a patient with clinical and radiological findings of MCD who had coxa valga and normal height with metaphyseal involvement of the long bones. The short radii and ulnae showed a very severe change in their distal metaphyses, leading to mesomelic shortening confined to the upper limbs. Hematological, ophthalmological, and hearing examinations were normal. This type of MCD appears to represent a yet undescribed syndrome.
干骺端软骨发育异常（MCD）是一类以干骺端异常为特征的骨骼疾病，通常还伴有身材矮小。在MCD中，临床和放射学改变存在广泛的异质性。我们报告了一名具有MCD临床和放射学表现的患者，该患者存在髋外翻且身高正常，但长骨干骺端受累。短小的桡骨和尺骨在其远端干骺端呈现出非常严重的改变，导致仅局限于上肢的中肢短小。血液学、眼科和听力检查均正常。这种类型的MCD似乎代表了一种尚未被描述的综合征。
