Mäkitie O, Marttinen E, Kaitila I
Department of Medical Genetics, University of Helsinki, Finland.
Pediatr Radiol. 1992;22(6):434-9. doi: 10.1007/BF02013505.
Cartilage-hair hypoplasia is a metaphyseal chondrodysplasia with short-limbed short stature. In childhood radiographs the metaphyseal regions of the tubular bones are widened, scalloped and irregularly sclerotic. We have analyzed radiological characteristics and skeletal growth in 149 radiographic surveys of 82 Finnish patients. All extremity long bones were affected and short for age. The growth failure was progressive. In the adults the median relative lengths were for the humerus -6.3 SD, radius -8.6 SD, ulna -6.7 SD, femur -9.7 SD, tibia -8.7 SD, and fibula -6.8 SD. the severity of the metaphyseal changes correlated with the degree of the growth failure. The skeletal age was markedly retarded in 14% of the patients. Caudal widening of the interpediculate distance in the lumbar spine was observed in 90% of the patients, but it tended to be less than normal. The sagittal diameter of the spinal canal was normal in the cervical region but decreased in the lumbar region. Mild scoliosis was observed in one-fourth of the patients, and its incidence increased with age. Lumbar lordosis was moderately increased. Thoracic deformity was observed in 82% of the patients. The relative interorbital distance was increased with the median of +2.2 SD in the adults.
软骨毛发发育不全是一种伴有短肢身材矮小的干骺端软骨发育异常。在儿童期X线片上，管状骨的干骺端区域增宽、呈扇形且硬化不规则。我们分析了82例芬兰患者149次X线检查的影像学特征和骨骼生长情况。所有四肢长骨均受累且相对于年龄短小。生长衰竭呈进行性。在成年人中，肱骨的相对长度中位数为-6.3标准差，桡骨为-8.6标准差，尺骨为-6.7标准差，股骨为-9.7标准差，胫骨为-8.7标准差，腓骨为-6.8标准差。干骺端改变的严重程度与生长衰竭程度相关。14%的患者骨骼年龄明显延迟。90%的患者观察到腰椎椎弓根间距尾侧增宽，但往往小于正常。颈椎区域椎管矢状径正常，但腰椎区域减小。四分之一的患者观察到轻度脊柱侧弯，其发生率随年龄增加。腰椎前凸中度增加。82%的患者观察到胸廓畸形。成年人的相对眶间距离增加，中位数为+2.2标准差。
