Fetal akinesia/hypokinesia sequence: Prenatal diagnosis and intra‐familial variability

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.

[1]  Naveed,et al.  New manifestations of Neu-Laxova syndrome. , 1990, American journal of medical genetics.

[2]  M. D'armiento,et al.  Neu-Laxova syndrome: pathological, radiological, and prenatal findings in a stillborn female. , 1989, American journal of medical genetics.

[3]  C. Lockwood,et al.  The prenatal sonographic diagnosis of lethal multiple pterygium syndrome: a heritable cause of recurrent abortion. , 1988, American journal of obstetrics and gynecology.

[4]  G. Lazjuk,et al.  Cerebral abnormalities in the Neu-Laxova syndrome. , 1988, American journal of medical genetics.

[5]  J. Abramowicz,et al.  Prenatal diagnosis of the pterygium syndrome , 1988, Prenatal diagnosis.

[6]  J. Tolmie,et al.  The Neu-Laxova syndrome in female sibs: clinical and pathological features with prenatal diagnosis in the second sib. , 1987, American journal of medical genetics.

[7]  P. Kirby,et al.  A case of the Neu-Laxova syndrome: prenatal ultrasonographic monitoring in the third trimester and the histopathological findings. , 1987, American journal of medical genetics.

[8]  J. Williams,et al.  Neu-Laxova syndrome: report of two cases. , 1986, Pediatric pathology.

[9]  T. Kelly,et al.  Prenatal diagnosis of Pena-Shokeir syndrome type 1. , 1985, American journal of medical genetics.

[10]  J. Opitz,et al.  Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: delineation of a new entity and review of lethal forms of multiple pterygium syndrome. , 1984, American journal of medical genetics.

[11]  A. Moessinger,et al.  Fetal akinesia deformation sequence: an animal model. , 1983, Pediatrics.

[12]  S. Reed,et al.  Comments on the Neu-Laxova syndrome and CAD complex. , 1981, American journal of medical genetics.

[13]  G. Lazjuk,et al.  The Neu‐Laxova syndrome—a distinct entity , 1979 .

[14]  R. Laxová,et al.  A further example of a lethal autosomal recessive condition in sibs. , 2008, Journal of mental deficiency research.

[15]  T. Kajii,et al.  A lethal syndrome of microcephaly with multiple congenital anomalies in three siblings. , 1971, Pediatrics.

[16]  D. Drachman,et al.  Experimental clubfoot and arthrogryposis multiplex congenita. , 1962, Lancet.