Prenatal diagnosis of tibial hemimelia type I and omphalocele, a rare entity and postnatal correlation

Hemimelia is a rare anomaly affecting the distal long bones of extremities, with an occurrence of 1-20 cases per million of live births depending on the affected bone. Hemimelia can be an isolated defect or be part of complex syndromes that affect extra skeletal structures. Prenatal detection by rou...

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Bibliographic Details
Published inBJR case reports Vol. 7; no. 1; p. 20200002
Main Authors Molina-Giraldo, Saulo, Saucedo, Jesus Armando, Navarro-Devia, Antonio José, Buitrago-Leal, Marcela
Format Journal Article
LanguageEnglish
Published England The British Institute of Radiology 01.01.2021
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Case Report
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Summary:Hemimelia is a rare anomaly affecting the distal long bones of extremities, with an occurrence of 1-20 cases per million of live births depending on the affected bone. Hemimelia can be an isolated defect or be part of complex syndromes that affect extra skeletal structures. Prenatal detection by routine ultrasound imaging is difficult and yields low detection rates. The prenatal diagnosis of hemimelia should prompt a complete and detailed study of the fetal anatomy, since it can be associated with defects in other structures and systems, as the reported in this case. The prognosis depends upon the associated anomalies.
ISSN:2055-7159
2055-7159
DOI:10.1259/bjrcr.20200002