PMID: 3321025Nov 1, 1987Paper

Prenatal diagnosis of a new syndrome: holoprosencephaly with hypokinesia

Prenatal Diagnosis
R P MorseJ M Graham

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.

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Citations

Mar 20, 2015·American Journal of Medical Genetics. Part a·Jesse M HunterLisa Baumbach-Reardon
Aug 1, 2009·Birth Defects Research. Part A, Clinical and Molecular Teratology·Judith G Hall
Aug 2, 2002·Journal of Child Neurology·Nathaniel KhoStephen Coons
Apr 5, 2002·American Journal of Medical Genetics·M Michael Cohen, Kohei Shiota
Feb 15, 2001·American Journal of Medical Genetics·H PlauchuA Verloes
Sep 27, 2006·Birth Defects Research. Part A, Clinical and Molecular Teratology·M Michael Cohen
Nov 8, 2007·American Journal of Medical Genetics. Part a·Iêda M Orioli, Eduardo E Castilla
Apr 13, 2007·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·J I P de Vries, B F Fong
Jun 18, 1998·Clinical Genetics·J E Ming, M Muenke

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