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Tibial hemimelia syndrome: Prenatal diagnosis by real‐time ultrasound
Author(s) -
Ramirez Mildred,
Hecht Jacqueline T.,
Taylor Suzanne,
Wilkins Isabelle
Publication year - 1994
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970140304
Subject(s) - prenatal diagnosis , medicine , gestation , ultrasound , pregnancy , ectromelia , ectrodactyly , lower limb , prenatal ultrasound , fetus , obstetrics , pediatrics , surgery , radiology , biology , genetics , virus , ectodermal dysplasia , virology
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.