title: Fetal akinesia deformation sequence: expanding the phenotypic spectrum.
abstract: 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.
authors.affiliation: Department of Medical Genetics, Kasturba Medical College, Manipal, Karnataka, India.
authors.forename: Shalini S
authors.initials: SS
authors.lastname: Nayak
authors.forename: Rajagopal
authors.initials: R
authors.lastname: Kadavigere
authors.forename: Mary
authors.initials: M
authors.lastname: Mathew
authors.forename: Pratap
authors.initials: P
authors.lastname: Kumar
authors.forename: Judith G
authors.initials: JG
authors.lastname: Hall
authors.forename: Katta M
authors.initials: KM
authors.lastname: Girisha
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001176:Arthrogryposis / Q000235:genetics*; D002526:Cerebellar Diseases / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D005260:Female; D005333:Fetus; D006801:Humans; D010641:Phenotype
keywords: Purkinje cells; arthrogryposis multiplex congenita; autopsy; bulbous tips of digits; caudal appendage; cerebellar hypoplasia; cleft palate; fetal finger pads; fetal hypokinesia sequence; multiple congenital contractures; multiple pterygium; prominent digit pad; ventriculomegaly; webbing of neck