Prenatal diagnosis of a new syndrome: holoprosencephaly with hypokinesia.
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.
Morse
R P
RP
Department of Maternal and Child Health, Dartmouth-Hitchcock Medical Center, Hanover, NH 03756.
Rawnsley
E
E
Sargent
S K
SK
Graham
J M
JM
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000328:Adult; D001921:Brain / Q000002:abnormalities*; D003286:Contracture / Q000175:diagnosis; D005260:Female; D005317:Fetal Growth Retardation / Q000175:diagnosis; D005324:Fetal Movement; D006801:Humans; D007596:Joints; D008831:Microcephaly / Q000175:diagnosis; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome; D014463:Ultrasonography