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Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited.
Birth Defects Res A Clin Mol Teratol. 2009 Aug; 85(8):677-94.BD

Abstract

BACKGROUND

Pena and Shokeir described the phenotype of two sisters in 1974, and subsequently their features have become recognized as a sequence of deformational changes related to decreased or absent fetal movement (fetal akinesia deformation sequence [FADS]), because of the work of Moessinger (1983).

METHODS

Identification of reported cases by searching Online Mendelian Inheritance in Man, Medlines, the London Dysmorphology Database, and the references found in these articles. These case reports were reviewed, tabulated, and summarized.

RESULTS

It is now possible to recognize at least 20 familial types of Pena-Shokeir phenotype (PSP), based on the differences found in the reports of the natural history and pathology found at fetal and newborn autopsy. In addition, characteristic changes in the central nervous system seen with embryonic/fetal vascular compromise have been recognized in many reported cases. Most of the reported cases of PSP/FADS related to vascular compromise are sporadic, but familial cases have also been reported.

CONCLUSION

Lack of fetal movement (fetal akinesia) in humans produces a recognizable sequence of deformations. Many developmental processes must be accomplished for fetal movement to be normal, and for extra-uterine life to be sustainable. Prenatal diagnosis is possible through real-time ultrasound studies as early as 12 weeks. Most reported cases die in utero, at birth, or in the newborn period. Advances in embryo/fetus pathology have led to the recognition of the many familial subtypes, allowing improved genetic counseling and early recognition in subsequent pregnancies.

Authors+Show Affiliations

Department of Medical Genetics, University of British Columbia and Children's and Women's Health Centre of British Columbia, Vancouver, British Columbia, Canada. jhall@cw.bc.ca

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

19645055

Citation

Hall, Judith G.. "Pena-Shokeir Phenotype (fetal Akinesia Deformation Sequence) Revisited." Birth Defects Research. Part A, Clinical and Molecular Teratology, vol. 85, no. 8, 2009, pp. 677-94.
Hall JG. Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited. Birth Defects Res A Clin Mol Teratol. 2009;85(8):677-94.
Hall, J. G. (2009). Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited. Birth Defects Research. Part A, Clinical and Molecular Teratology, 85(8), 677-94. https://doi.org/10.1002/bdra.20611
Hall JG. Pena-Shokeir Phenotype (fetal Akinesia Deformation Sequence) Revisited. Birth Defects Res A Clin Mol Teratol. 2009;85(8):677-94. PubMed PMID: 19645055.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited. A1 - Hall,Judith G, PY - 2009/8/1/entrez PY - 2009/8/1/pubmed PY - 2009/12/16/medline SP - 677 EP - 94 JF - Birth defects research. Part A, Clinical and molecular teratology JO - Birth Defects Res A Clin Mol Teratol VL - 85 IS - 8 N2 - BACKGROUND: Pena and Shokeir described the phenotype of two sisters in 1974, and subsequently their features have become recognized as a sequence of deformational changes related to decreased or absent fetal movement (fetal akinesia deformation sequence [FADS]), because of the work of Moessinger (1983). METHODS: Identification of reported cases by searching Online Mendelian Inheritance in Man, Medlines, the London Dysmorphology Database, and the references found in these articles. These case reports were reviewed, tabulated, and summarized. RESULTS: It is now possible to recognize at least 20 familial types of Pena-Shokeir phenotype (PSP), based on the differences found in the reports of the natural history and pathology found at fetal and newborn autopsy. In addition, characteristic changes in the central nervous system seen with embryonic/fetal vascular compromise have been recognized in many reported cases. Most of the reported cases of PSP/FADS related to vascular compromise are sporadic, but familial cases have also been reported. CONCLUSION: Lack of fetal movement (fetal akinesia) in humans produces a recognizable sequence of deformations. Many developmental processes must be accomplished for fetal movement to be normal, and for extra-uterine life to be sustainable. Prenatal diagnosis is possible through real-time ultrasound studies as early as 12 weeks. Most reported cases die in utero, at birth, or in the newborn period. Advances in embryo/fetus pathology have led to the recognition of the many familial subtypes, allowing improved genetic counseling and early recognition in subsequent pregnancies. SN - 1542-0760 UR - https://www.unboundmedicine.com/medline/citation/19645055/Pena_Shokeir_phenotype__fetal_akinesia_deformation_sequence__revisited_ L2 - https://doi.org/10.1002/bdra.20611 DB - PRIME DP - Unbound Medicine ER -