Second-trimester sonographic diagnosis of diastrophic dysplasia: report of 2 index cases.
作者信息
Wax Joseph R, Carpenter Molly, Smith Wendy, Grimes Charles, Pinette Michael G, Blackstone Jacquelyn, Cartin Angelina
机构信息
Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Maine Medical Center, Portland, Maine, USA.
出版信息
J Ultrasound Med. 2003 Aug;22(8):805-8. doi: 10.7863/jum.2003.22.8.805.
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.
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