Hall B D, Spranger J W
Radiology. 1979 Sep;132(3):611-4. doi: 10.1148/132.3.611.
The case reports of 2 brothers with congenital bowing and short broad bones are discussed. In this apparently new familial bowing syndrome, the rhizometic portions of the limbs are more severely involved, particularly the femora. In early infancy the metaphyses are moderately flared and irregular, but these improve dramatically during childhood. Clinical abnormalities are limited primarily to the thorax. Prognosis appears good except for the persisting disproportionately short stature. These 2 patients may resemble one or both patients previously reported by Khajavi et al. under the label of short-limbed campomelic syndrome, normocephalic type (1).
本文讨论了两兄弟患有先天性骨骼弯曲和短而宽的骨骼的病例报告。在这种明显的新型家族性骨骼弯曲综合征中,四肢的近侧部分受累更为严重,尤其是股骨。在婴儿早期,干骺端中度增宽且不规则,但在儿童期会显著改善。临床异常主要局限于胸部。除了持续存在的身材比例失调性矮小外,预后似乎良好。这两名患者可能与Khajavi等人之前报道的一名或两名被标记为短肢性侏儒综合征、正颅型(1)的患者相似。