Lecora M, Parenti G, Iaccarino E, Scarano G, Cucchiara S, Andria G
Department of Pediatrics, Federico II University, Naples, Italy.
Clin Dysmorphol. 1995 Apr;4(2):130-5.
We describe a case of semi-lethal chondrodysplasia with skeletal manifestations, detectable at birth, typical of the round femoral inferior epiphysis dysplasia (RFIED) or 'Glasgow' variant. Immunological abnormalities and Hirschsprung disease, so far described only in cartilage hair hypoplasia (CHH), were documented during the first months of life in our patient. These findings confirm the hypothesis that RFIED is a form of CHH with early infantile onset.
我们描述了一例具有骨骼表现的半致死性软骨发育不良病例，出生时即可检测到，典型表现为圆形股骨下端骨骺发育不良（RFIED）或“格拉斯哥”变异型。免疫异常和先天性巨结肠病，迄今为止仅在软骨毛发发育不全（CHH）中有所描述，在我们的患者出生后的头几个月被记录下来。这些发现证实了RFIED是一种早发型CHH的假说。
