Second-Trimester Sonographic Diagnosis of Diastrophic Dysplasia: Report of 2 Index Cases

To describe the sonographic features of diastrophic dysplasia in 2 second-trimester index offspring. Real-time sonography was performed on 2 second-trimester fetuses with no risk factors for skeletal dysplasia. Each fetus had severe bilateral upper and lower extremity long bone shortening, hitchhike...

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Bibliographic Details
Published in:Journal of ultrasound in medicine 2003-08, Vol.22 (8), p.805-808
Main Authors: Wax, Joseph R, Carpenter, Molly, Smith, Wendy, Grimes, Charles, Pinette, Michael G, Blackstone, Jacquelyn, Cartin, Angelina
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
Bone Diseases, Developmental - diagnostic imaging
Female
Fetal Diseases - diagnostic imaging
Humans
Medical sciences
Pregnancy
Pregnancy Trimester, Second
Ultrasonography, Prenatal
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Summary:To describe the sonographic features of diastrophic dysplasia in 2 second-trimester index offspring. Real-time sonography was performed on 2 second-trimester fetuses with no risk factors for skeletal dysplasia. 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. Index cases of diastrophic dysplasia may be correctly diagnosed on the basis of second-trimester sonography.
ISSN:0278-4297
1550-9613
DOI:10.7863/jum.2003.22.8.805