title: Second-trimester sonographic diagnosis of diastrophic dysplasia: report of 2 index cases.
abstract: OBJECTIVE
  To describe the sonographic features of diastrophic dysplasia in 2 second-trimester index offspring.
  
  
  METHODS
  Real-time sonography was performed on 2 second-trimester fetuses with no risk factors for skeletal dysplasia.
  
  
  RESULTS
  Each fetus had severe bilateral upper and lower extremity long bone shortening, hitchhiker thumbs and great toes, and clubbed feet, indicating a diagnosis of diastrophic dysplasia.
  
  
  CONCLUSIONS
  Index cases of diastrophic dysplasia may be correctly diagnosed on the basis of second-trimester sonography.
authors.affiliation: Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Maine Medical Center, Portland, Maine, USA. waxj@mmc.org
authors.forename: Joseph R
authors.initials: JR
authors.lastname: Wax
authors.forename: Molly
authors.initials: M
authors.lastname: Carpenter
authors.forename: Wendy
authors.initials: W
authors.lastname: Smith
authors.forename: Charles
authors.initials: C
authors.lastname: Grimes
authors.forename: Michael G
authors.initials: MG
authors.lastname: Pinette
authors.forename: Jacquelyn
authors.initials: J
authors.lastname: Blackstone
authors.forename: Angelina
authors.initials: A
authors.lastname: Cartin
mesh_terms: D000328:Adult; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging*; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D006801:Humans; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D016216:Ultrasonography, Prenatal