Penta X syndrome: a case report with review of the literature.

  title={Penta X syndrome: a case report with review of the literature.},
  author={R Kassai and Isamu Hamada and Hirofumi Furuta and K Cho and Kyōko Abe and Han Xiang Deng and Norio Niikawa},
  journal={American journal of medical genetics},
  volume={40 1},
We describe a 6 month-old girl with a 49, XX-XXX chromosome constitution. The patient had a characteristic round face, a low hairline, hypertelorism, epicanthus, a long philtrum, high-arched palate, short and webbed neck, small hands and feet, clinodactyly of the fifth fingers, overlapping toes, and separation between the first and the second toes. She also had atrial septal defect and patent ductus arteriosus complicated by myocarditis which exacerbated the course of her congestive heart… CONTINUE READING


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