Reiter S
Pediatr Radiol. 1978 Apr 10;7(1):53-5. doi: 10.1007/BF00975340.
Acrodysostosis--a rare congenital malformation syndrome--is described in a 4 1/2 year old boy with peripheral dysostosis, nasal hypoplasia, mental retardation (PNM syndrome) and impaired hearing. The differential diagnosis includes pseudo (PH)--and pseudo-pseudohypoparathyroidism (PPH). The patient described here had severe peripheral dysostosis, typical of PNM as opposed to the above-mentioned conditions with only moderate peripheral dysostosis. Furthermore, there were no soft tissue calcifications and no intracranial calcification as can be seen in PH and PPH. Laboratory findings were normal.
肢端发育不全症——一种罕见的先天性畸形综合征——在一名4岁半的男孩中被描述，该男孩患有外周性骨发育不全、鼻发育不全、智力迟钝（PNM综合征）和听力受损。鉴别诊断包括假性甲状旁腺功能减退症（PH）和假性假性甲状旁腺功能减退症（PPH）。此处描述的患者有严重的外周性骨发育不全，这是PNM综合征的典型表现，与上述仅有中度外周性骨发育不全的疾病不同。此外，在PH和PPH中可见的软组织钙化和颅内钙化在该患者中并未出现。实验室检查结果正常。
