Ablow R C, Hsia Y E, Brandt I K
AJR Am J Roentgenol. 1977 Jan;128(1):95-9. doi: 10.2214/ajr.128.1.95.
The diagnosis of acrodysostosis has been differentiated from that of pseudohypoparathyroidism or pseudo-pseudohypoparathyroidism by the absence of endocrine abnormalities, more generalized osseous abnormalities, and a characteristic facial appearance. Two cases are presented which fulfill all of the major features of acrodysostosis: peripheral dysostosis, nasal hypoplasia (pug nose), and mental retardation. The first case had all the metabolic abnormalities of pseudohypoparathyroidism; the second case had urinary cyclic adenosine-3',5'-monophosphate findings suggestive of pseudo-pseudohypoparathyroidism. Therefore acrodysostosis cannot be differentiated from pseudohypoparathyroidism or pseudopseudohypoparathyroidism on clinical and radiologic features only.
肢端发育不全的诊断可通过无内分泌异常、更广泛的骨骼异常及特征性面容与假性甲状旁腺功能减退症或假-假性甲状旁腺功能减退症相鉴别。本文报告两例符合肢端发育不全所有主要特征的病例：外周性骨发育不全、鼻发育不全（狮子鼻）及智力发育迟缓。第一例有假性甲状旁腺功能减退症的所有代谢异常；第二例尿中环磷酸腺苷的检查结果提示假-假性甲状旁腺功能减退症。因此，仅根据临床和放射学特征无法将肢端发育不全与假性甲状旁腺功能减退症或假-假性甲状旁腺功能减退症区分开来。
