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Tibial hemimelia syndrome: Prenatal diagnosis by real-time ultrasound |
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| Authors: | Mildred Ramirez MD Jacqueline T Hecht Suzanne Taylor Isabelle Wilkins |
| Institution: | 1. Department of Pediatric, University of Texas Medical School at Houston, Houston, Texas, U.S.A.;2. Department of Pathology, University of Texas Medical School at Houston, Houston, Texas, U.S.A.;3. Department of Obstetrics and Gynecology, University of Texas Medical School at Houston, Houston, Texas, U.S.A. |
| Abstract: | 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. |
| Keywords: | Tibial hemimelia syndrome prenatal diagnosis ultrasound genetic syndrome autosomal dominant inheritance |