Schrander-Stumpel C, Spaepen A, Fryns J P, Dumon J
Department of Clinical Genetics, Academic Hospital Maastricht, University of Limburg, The Netherlands.
Am J Med Genet. 1992 Jul 15;43(5):877-81. doi: 10.1002/ajmg.1320430525.
We report on a 16-year-old girl with mandibuloacral dysplasia, a rare progeroid syndrome. She presented at age 2 years with thin skin on the limbs, characteristic face with prominent eyes, a pinched nose, micrognathia, and small mouth. Hair was sparse and brittle. The terminal phalanges were hypoplastic and showed acroosteolysis. On follow-up, hands and feet showed progressive camptodactyly of fingers and toes with total loss of subcutaneous tissue. The clavicles were hypoplastic. Intelligence was normal. We review the literature on the subject and discuss differential diagnosis.
我们报告了一名患有下颌骨-肢端发育不良（一种罕见的早老样综合征）的16岁女孩。她2岁时出现四肢皮肤薄、具有特征性面容（眼睛突出、鼻子尖细、小颌畸形和小嘴）。头发稀疏且易折断。末节指骨发育不全并显示肢端骨质溶解。随访发现，手和脚出现手指和脚趾渐进性屈曲挛缩，皮下组织完全消失。锁骨发育不全。智力正常。我们回顾了关于该主题的文献并讨论了鉴别诊断。
