title: Prenatal diagnosis of arthrogryposis multiplex congenita with increased nuchal translucency but without any underlying fetal neurogenic or myogenic pathology.
abstract: Arthrogryposis multiplex congenita is a general term for congenital multiple joint contractures, the aetiology of which is variable. Prenatal diagnosis is usually based on the detection of diminished fetal movements and joint contractures on ultrasound. There are also reports of early diagnosis of arthrogryposis in the first and early second trimester by detection of subcutaneous oedema. We report another case of arthrogryposis multiplex congenita with increased nuchal translucency and scoliosis diagnosed by ultrasonography at 15 weeks of gestation. The pregnancy was terminated at the request of the parents. Post-mortem examination revealed that it was not associated with fetal myopathy or neuropathy. Multiple joint contractures with increased nuchal translucency without any underlying fetal neurogenic and myogenic pathology may be a distinct form of arthrogryposis multiplex congenita.
authors.affiliation: Department of Obstetrics and Gynaecology, Cerrahpasa Medical Faculty, University of Istanbul, Turkey. madazli@ixir.com
authors.forename: Riza
authors.initials: R
authors.lastname: Madazli
authors.forename: Beyhan
authors.initials: B
authors.lastname: Tüysüz
authors.forename: Figen
authors.initials: F
authors.lastname: Aksoy
authors.forename: Merve
authors.initials: M
authors.lastname: Barbaros
authors.forename: Seyfettin
authors.initials: S
authors.lastname: Uludağ
authors.forename: Vildan
authors.initials: V
authors.lastname: Ocak
mesh_terms: D001132:Arm / Q000000981:diagnostic imaging / Q000196:embryology; D001176:Arthrogryposis / Q000000981:diagnostic imaging*; D003286:Contracture / Q000000981:diagnostic imaging / Q000196:embryology; D005260:Female; D006801:Humans; D007866:Leg / Q000000981:diagnostic imaging / Q000196:embryology; D009333:Neck / Q000000981:diagnostic imaging* / Q000196:embryology*; D011247:Pregnancy; D012600:Scoliosis / Q000196:embryology; D012782:Shoulder / Q000000981:diagnostic imaging / Q000196:embryology; D016216:Ultrasonography, Prenatal