title: Prenatal sonographic diagnosis of Pena-Shokeir syndrome type I, or fetal akinesia deformation sequence.
abstract: We report on a familial case of Pena-Shokeir syndrome type I (fetal akinesia deformation sequence) born to healthy parents. The antenatal ultrasound diagnosis was based on hydramnios, restricted limb movements, decreased fetal chest movements, small chest, arthrogryposis, clubfoot, fixed extension of knees, fixed flexion of elbows, camptodactyly, kyphosis of thoracic spine, cryptorchidism, and small muscle bulk. Thymic hyperplasia was noted at autopsy.
authors.affiliation: University of Toronto Regional Perinatal Unit, Women's College Hospital, Ontario, Canada.
authors.forename: A
authors.initials: A
authors.lastname: Ohlsson
authors.forename: K W
authors.initials: KW
authors.lastname: Fong
authors.forename: T H
authors.initials: TH
authors.lastname: Rose
authors.forename: D C
authors.initials: DC
authors.lastname: Moore
mesh_terms: D000015:Abnormalities, Multiple / Q000145:classification / Q000175:diagnosis* / Q000235:genetics; D003241:Consanguinity; D003286:Contracture / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005324:Fetal Movement; D006801:Humans; D007231:Infant, Newborn; D008168:Lung / Q000002:abnormalities; D008297:Male; D009132:Muscles / Q000002:abnormalities; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome; D013952:Thymus Hyperplasia / Q000235:genetics; D014463:Ultrasonography