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Prenatal sonographic features of dyssegmental dysplasia Rolland-Desbuquois type.
Wax, Joseph R; Albanese, Julie; Smith, Rosemarie; Pinette, Michael G; Chard, Renee; Cartin, Angelina.
Afiliación
  • Wax JR; Division of Maternal-Fetal Medicine Department of Obstetrics and Gynecology, Maine Medical Center, Portland, ME, USA. waxj@mmc.org
J Clin Ultrasound ; 39(8): 480-3, 2011 Oct.
Article en En | MEDLINE | ID: mdl-21882205
ABSTRACT
Dyssegmental dysplasia is a rare, lethal, autosomal-recessive disorder characterized by severe camptomicromelia and anisospondyly. We describe the prenatal sonographic findings in an index case of the Rolland-Desbuquois type, with the diagnosis made by neonatal skeletal survey. Recognition of the unique vertebral disorganization may be used to prenatally distinguish dyssegmental dysplasia from other severe short-limbed conditions.
Asunto(s)

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Acondroplasia / Ultrasonografía Prenatal / Fisura del Paladar / Displasia Campomélica Tipo de estudio: Diagnostic_studies Límite: Adult / Female / Humans / Pregnancy Idioma: En Revista: J Clin Ultrasound Año: 2011 Tipo del documento: Article País de afiliación: Estados Unidos

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Acondroplasia / Ultrasonografía Prenatal / Fisura del Paladar / Displasia Campomélica Tipo de estudio: Diagnostic_studies Límite: Adult / Female / Humans / Pregnancy Idioma: En Revista: J Clin Ultrasound Año: 2011 Tipo del documento: Article País de afiliación: Estados Unidos