Tibial hemimelia syndrome: prenatal diagnosis by real-time ultrasound.
The tibial hemimelia syndrome is a rare autosomal dominant condition associated with limb deficiencies. We recently diagnosed this condition in a pregnancy at 16.5 weeks' gestation by ultrasound and a positive family history. To our knowledge, this represents the first case to be detected prenatally.
Ramirez
M
M
Department of Obstetrics and Gynecology, University of Texas Medical School at Houston 77225.
Hecht
J T
JT
Taylor
S
S
Wilkins
I
I
D000328:Adult; D003199:Computer Systems; D004480:Ectromelia / Q000000981:diagnostic imaging* / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D011247:Pregnancy; D013577:Syndrome; D013977:Tibia / Q000002:abnormalities*; D016216:Ultrasonography, Prenatal / Q000379:methods