Baxova A, Kozlowski K, Netriova I
Department of Clinical Genetics, Dererova Nemocnica, Bratislava, Slovakia.
Pediatr Radiol. 1993;23(6):446-9. doi: 10.1007/BF02012447.
A 12.5-year-old girl with severe micromelic dwarfism and characteristic radiographic findings is reported. The most important phenotypic abnormality was dwarfism (stature < 100 cm); the patient had a normal face and intelligence. The diagnostic radiographic findings were those of spondylo-epimetaphyseal dysplasia characterized by severe shortening of humerus, femur and tibia, hypoplastic but normal-shaped fibula, ulna and radius, uniform shortening of the short tubular bones and moderately severe platyspondyly. These radiographic changes were already present at birth, which should make it possible to recognize the disease in the newborn. We propose naming this disorder micromelic dwarfism-humerus, femur, tibia type.
报道了一名12.5岁患有严重短肢侏儒症且有典型影像学表现的女孩。最重要的表型异常是侏儒症（身高<100cm）；患者面部和智力正常。诊断性影像学表现为脊椎骨骺发育异常，其特征为肱骨、股骨和胫骨严重缩短，腓骨、尺骨和桡骨发育不全但形态正常，短管状骨均匀缩短以及中度严重的扁平椎体。这些影像学改变在出生时就已存在，这应该使得在新生儿期就能识别该疾病。我们建议将这种疾病命名为短肢侏儒症 - 肱骨、股骨、胫骨型。
