Graham J M, Krakow D, Tolo V T, Smith A K, Lachman R S
Division of Clinical Genetics Birth Defects Center, Medical Genetics Birth Defects Center, International Skeletal Dysplasia Registry, UCLA School of Medicine, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Pediatr Radiol. 2001 Jan;31(1):2-9. doi: 10.1007/s002470000355.
Acrodysostosis is an uncommon skeletal dysplasia associated with nasal hypoplasia, midface deficiency, severe brachydactyly, and varying degrees of hearing loss and mental retardation. Previous publications have suggested that it may be difficult to distinguish acrodystostosis from pseudohypoparathyroidism on clinical grounds, but acrodysostosis does appear to have distinct clinical and radiologic findings. Spinal stenosis is an underappreciated risk in acrodysostosis, despite the reported loss of normal caudal widening of the lumbar interpediculate distance on AP spine radiographs in the original report of this disorder by Robinow et al., with confirmation of these radiographic findings by Butler et al. We report two sporadic cases of acrodysostosis, one of which required decompressive laminectomy for symptomatic spinal stenosis, and review 11 cases of acrodysostosis from 9 families that were submitted to the International Skeletal Dysplasia Registry. The objective of this report is to determine the frequency and severity of spinal stenosis in patients with acrodysostosis and to summarize the clinical and radiographic findings of acrodysostosis in an effort to distinguish acrodysostosis clearly from pseudohypoparathyroidism. The pattern of brachydactyly differs between these two conditions, and varying degrees of spinal stenosis are characteristic of acrodysostosis. Both our index patients with acrodysostosis had normal bioactivity of the alpha subunit of the Gs protein, therefore indicating that acrodysostosis has a different pathogenesis from pseudohypoparathyroidism. Furthermore, single-strand confirmational polymorphism (SSCP) analysis failed to demonstrate any confirmational alterations in the coding exons of the Gs alpha gene. These radiographic and laboratory findings substantiate that acrodysostosis is clinically different from pseudohypoparathyroidism and that it is necessary to follow patients with acrodysostosis for signs of spinal stenosis.
肢端发育不全是一种罕见的骨骼发育不良，伴有鼻发育不全、面中部发育不全、严重短指畸形以及不同程度的听力丧失和智力发育迟缓。既往文献表明，基于临床依据可能难以将肢端发育不全与假性甲状旁腺功能减退区分开来，但肢端发育不全似乎确实具有独特的临床和影像学表现。尽管在Robinow等人关于该疾病的原始报告中，腰椎前后位脊柱X线片显示腰椎椎弓根间距正常的尾侧增宽消失，随后Butler等人也证实了这些影像学表现，但脊柱狭窄在肢端发育不全中是一个未被充分认识的风险。我们报告了两例散发性肢端发育不全病例，其中一例因症状性脊柱狭窄接受了减压性椎板切除术，并回顾了提交至国际骨骼发育不良登记处的来自9个家族的11例肢端发育不全病例。本报告的目的是确定肢端发育不全患者脊柱狭窄的发生率和严重程度，并总结肢端发育不全的临床和影像学表现，以便将肢端发育不全与假性甲状旁腺功能减退清楚地区分开来。这两种疾病的短指畸形模式不同，不同程度的脊柱狭窄是肢端发育不全的特征。我们的两例肢端发育不全索引患者的Gs蛋白α亚基生物活性均正常，因此表明肢端发育不全的发病机制与假性甲状旁腺功能减退不同。此外，单链构象多态性（SSCP）分析未能在Gsα基因的编码外显子中显示任何构象改变。这些影像学和实验室检查结果证实，肢端发育不全在临床上与假性甲状旁腺功能减退不同，并且有必要对肢端发育不全患者进行随访，以观察脊柱狭窄的迹象。
