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Second‐Trimester Sonographic Diagnosis of Diastrophic Dysplasia
Author(s) -
Wax Joseph R.,
Carpenter Molly,
Smith Wendy,
Grimes Charles,
Pinette Michael G.,
Blackstone Jacquelyn,
Cartin Angelina
Publication year - 2003
Publication title -
journal of ultrasound in medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.574
H-Index - 91
eISSN - 1550-9613
pISSN - 0278-4297
DOI - 10.7863/jum.2003.22.8.805
Subject(s) - medicine , dysplasia , renal dysplasia , fetus , first trimester , third trimester , radiology , pregnancy , anatomy , pathology , genetics , urinary system , biology
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.