Waterson J R, DiPietro M A, Barr M
Am J Med Genet. 1985 Aug;21(4):777-83. doi: 10.1002/ajmg.1320210422.
We describe a female infant with Apert syndrome (acrocephalosyndactyly, type I) and a frontonasal encephalocele with unremarkable family history.
我们描述了一名患有Apert综合征(Ⅰ型尖头并指畸形)及额鼻脑膨出的女婴,其家族史无异常。