TY - JOUR
T1 - Prenatal diagnosis of tibial hemimelia type I and omphalocele, a rare entity and postnatal correlation
AU - Buitrago Leal, Haidi Marcela
AU - Molina Giraldo, Saulo
AU - Saucedo, Jesus Armando
AU - Navarro Devia, Antonio José
PY - 2021/2/1
Y1 - 2021/2/1
N2 - 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.
AB - 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.
UR - https://pmc.ncbi.nlm.nih.gov/articles/PMC7869132/
M3 - Case report article
SN - 2055-7159
VL - 4
SP - 1
EP - 4
JO - BJR case reports
JF - BJR case reports
IS - 1
ER -