title: Fetal akinesia/hypokinesia sequence: prenatal diagnosis and intra-familial variability.
abstract: Intrauterine fetal movement plays a key role in normal embryonic and fetal development (Moessinger, 1983). When movement is absent or decreased, abnormal development takes place which can be appreciated in newborns and/or fetuses with the fetal akinesia/hypokinesia sequence. This sequence is caused by a number of heterogeneous entities which result in decreased fetal movements by the action of intrinsic or extrinsic factors. Prenatal diagnosis of the akinesia/hypokinesia sequence may be possible during the second trimester through the use of real-time ultrasonographic evaluation of fetal movement. We report a family with three consecutive affected pregnancies in which the prenatal presentation of this sequence varied. Based on the phenotypic findings of the three affected fetuses, we believe that although they superficially resemble those features found in the New-Laxova syndrome, they are probably affected with a distinctly different lethal form of akinesia/hypokinesia transmitted in an autosomal recessive fashion.
authors.affiliation: Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Cedars-Sinai Medical Center, Los Angeles, CA 90048.
authors.forename: C A
authors.initials: CA
authors.lastname: Bacino
authors.forename: L D
authors.initials: LD
authors.lastname: Platt
authors.forename: A
authors.initials: A
authors.lastname: Garber
authors.forename: D
authors.initials: D
authors.lastname: Carlson
authors.forename: S
authors.initials: S
authors.lastname: Pepkowitz
authors.forename: R S
authors.initials: RS
authors.lastname: Lachman
authors.forename: R
authors.initials: R
authors.lastname: Sharony
authors.forename: D L
authors.initials: DL
authors.lastname: Rimoin
authors.forename: J M
authors.initials: JM
authors.lastname: Graham
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000196:embryology / Q000235:genetics; D000328:Adult; D003199:Computer Systems; D003937:Diagnosis, Differential; D005124:Eye Abnormalities / Q000000981:diagnostic imaging; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D005324:Fetal Movement / Q000502:physiology*; D006801:Humans; D010641:Phenotype; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D012886:Skull / Q000002:abnormalities; D013577:Syndrome; D016216:Ultrasonography, Prenatal