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Prenatal diagnosis of a new syndrome: Holoprosencephaly with hypokinesia |
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| Authors: | Richard P. Morse Eileen Rawnsley Steven K. Sargent Dr. John M. Graham Jr. |
| Affiliation: | 1. Clinical Genetics and Child Development Center, Department of Maternal and Child Health, Dartmouth–Hitchcock Medical Center, Hanover, NH 03756, U.S.A;2. Clinical Genetics and Child Development Center, Department of Radiology, Dartmouth–Hitchcock Medical Center, Hanover, NH 03756, U.S.A |
| Abstract: | Markedly decreased fetal activity (akinesia/hypokinesia) is usually readily apparent to experienced mothers, and frequently this concern leads to attempts at prenatal diagnosis. We report prenatal diagnosis of two fetuses with congenital contractures, markedly decreased fetal movement, and microcephaly due to severe holoprosencephaly. Such familial recurrence to phenotypically normal parents suggests a newly recognized autosomal recessive or X-linked syndrome that is readily detectable by prenatal ultrasonography. |
| Keywords: | Congenital contractures Arthrogryposis Holoprosencephaly Pena–Shokeir syndrome Prenatal ultrasound Fetal akinesia/hypokinesia sequence |