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Prenatal diagnosis of a new syndrome: Holoprosencephaly with hypokinesia
Author(s) -
Morse Richard P.,
Rawnsley Eileen,
Sargent Steven K.,
Graham John M.
Publication year - 1987
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970070905
Subject(s) - hypokinesia , holoprosencephaly , prenatal diagnosis , microcephaly , fetus , medicine , pregnancy , pediatrics , endocrinology , biology , genetics
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.