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Ultrasound diagnosis of recurring Jeune's syndrome: a case report.
Kontomanolis, E N; Markopoulou, E; Pinidis, P; Georgiadis, A; Kokkoris, S; Limperis, V.
Afiliação
  • Kontomanolis EN; Department of Obstetrics & Gynecology, Democritus, University, Alexandroupolis, Greece. mek-2@otenet.gr
Clin Exp Obstet Gynecol ; 40(1): 162-4, 2013.
Article em En | MEDLINE | ID: mdl-23724536
ABSTRACT
Jeune's Syndrome or asphyxiating thoracic dystrophy (ATD) is a rare autosomal recessive skeletal dysplasia syndrome characterized by a small and narrow chest, short extremities, and often polydactyly associated with multiple organ manifestations. The severity of complications ranges from mild to lethal. This is a report of two cases of ATD diagnosed in successive pregnancies of a nonconsanguineous couple. The contribution of sonography in prenatal diagnosis of the syndrome is highlighted.
Assuntos
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Base de dados: MEDLINE Assunto principal: Síndrome de Ellis-Van Creveld Tipo de estudo: Diagnostic_studies Limite: Adult / Female / Humans / Male / Pregnancy Idioma: En Revista: Clin Exp Obstet Gynecol Ano de publicação: 2013 Tipo de documento: Article País de afiliação: Grécia
Buscar no Google
Base de dados: MEDLINE Assunto principal: Síndrome de Ellis-Van Creveld Tipo de estudo: Diagnostic_studies Limite: Adult / Female / Humans / Male / Pregnancy Idioma: En Revista: Clin Exp Obstet Gynecol Ano de publicação: 2013 Tipo de documento: Article País de afiliação: Grécia