Goldstein D J, Mirkin L D
Lilly Research Laboratories, Eli Lilly and Co., Indianapolis, Indiana 46285.
Am J Med Genet. 1988 Jul;30(3):741-6. doi: 10.1002/ajmg.1320300307.
Nager acrofacial dysostosis is characterized by malar, mandibular, and maxillary hypoplasia, macrostomia, abnormal ears, and radial defects. The lower limbs are usually normal. Two patients were reported with many of these manifestations, in addition to severe facial clefts and limb deficiency. These more severely affected patients were thought to have a severe form of Nager acrofacial dysostosis or a new syndrome. We report on a patient with limb findings of intermediate severity. This patient also had hydrocephalus, micropolygyria, and tetralogy of Fallot. This may indicate apparent heterogeneity or a single condition with widely variable expression.
纳杰尔肢体颜面发育不全的特征为颧骨、下颌骨和上颌骨发育不全、大口畸形、耳部异常以及桡骨缺陷。下肢通常正常。曾报道过两名患者，除了严重的面部裂隙和肢体缺损外，还有许多上述表现。这些受影响更严重的患者被认为患有严重形式的纳杰尔肢体颜面发育不全或一种新的综合征。我们报告了一名肢体表现为中度严重程度的患者。该患者还患有脑积水、微小多脑回和法洛四联症。这可能表明存在明显的异质性或一种具有广泛可变表现的单一病症。
