Analysis of Pena Shokeir phenotype.

  title={Analysis of Pena Shokeir phenotype.},
  author={Judith Goslin Hall},
  journal={American journal of medical genetics},
  volume={25 1},
At this point in time, we recognize that "Pena Shokeir" is not a diagnosis or a specific syndrome but rather a description of a phenotype produced by fetal akinesia or decreased in utero movement. In its "full blown" form, it is characterized by polyhydramnios, intrauterine growth retardation, pulmonary hypoplasia, craniofacial and limb anomalies, congenital contractures, short umbilical cord, and lethality. From the cases thus far reported, we would anticipate that the phenotype is present in… CONTINUE READING
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