Second-trimester sonographic diagnosis of diastrophic dysplasia: report of 2 index cases.
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.
Wax
Joseph R
JR
Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Maine Medical Center, Portland, Maine, USA. waxj@mmc.org
Carpenter
Molly
M
Smith
Wendy
W
Grimes
Charles
C
Pinette
Michael G
MG
Blackstone
Jacquelyn
J
Cartin
Angelina
A
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