Fetal Akinesia Deformation Sequence: Expanding the Phenotypic Spectrum

Nayak, Shalini S and Kadavigere, Rajagopal and Mathew, Mary and Kumar, Pratap and Girisha, KM (2014) Fetal Akinesia Deformation Sequence: Expanding the Phenotypic Spectrum. American Journal of Medical Genetics. pp. 1-6.

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We report on two unrelated fetuses born to nonconsanguineous couples with fetal akinesia deformation sequence (FADS). The fetuses shared facial features, micrognathia, fetal finger pads, bulbous digital tips, pterygia, clubfeet, ventriculomegaly, and cerebellar anomalies. Both had loss/absence of Purkinje cells in cerebellum. The first family had a similarly affected previous pregnancy suggesting an autosomal recessive inheritance. The second fetus, in addition to the findings in the first, had cleft palate and defective lobulation of lungs. These fetuses appear to have the Pena–Shokeir phenotype (PSP) or FADS. These two cases seem to define a newly recognizable subtype of FADS with bulbous digital tips, prominent digit pads and cerebellar anomalies, and highlight the phenotypic diversity of syndromes with multiple congenital contractures manifesting in utero.

Item Type: Article
Uncontrolled Keywords: Multiple congenital contractures; Fetal hypokinesia sequence; Arthrogryposis multiplex congenita; Webbing of neck; Cleft palate; Cerebellar hypoplasia; Ventriculomegaly; bulbous tips of digits; Prominent digit pad; Fetal finger pads; Multiple pterygium; Purkinje cells; Caudal appendage; Autopsy
Subjects: Medicine > KMC Manipal > Obstetrics & Gynaecology
Medicine > KMC Manipal > Pathology
Medicine > KMC Manipal > Paediatrics
Medicine > KMC Manipal > Radiology
Depositing User: KMC Manipal
Date Deposited: 11 Jul 2014 09:14
Last Modified: 11 Jul 2014 09:21
URI: http://eprints.manipal.edu/id/eprint/140086

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