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Prenatal diagnosis of unilateral tibial hemimelia
Author(s) -
Dreyfus M.,
Baldauf J.J.,
Rigaut E.,
Clavert J.M.,
Gasser B.,
Ritter J.
Publication year - 1996
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1046/j.1469-0705.1996.07030205.x
Subject(s) - medicine , prenatal diagnosis , obstetrics , pregnancy , fetus , genetics , biology
We describe a case of unilateral tibial agenesis which was initially observed at 21 weeks' gestation. Unlike bilateral tibial hemimelia syndrome, a rare autosomal dominant condition, unilateral tibial agenesis, which accounts for about three‐quarters of all newborns with this condition, has not previously been described. This case could have been a sporadic abnormality but, in view of the association with other observations (distal bifurcation of the femur, club foot), could be considered as an autosomal recessive inherited condition with variable penetrance. Ultrasonographic features and the genetic prognosis are discussed. Copyright © 1996 International Society of Ultrasound in Obstetrics and Gynecology