Page 378 - Abstract Book KONIKA 18

Pediatric Imaging

P-PI-017
Bilateral Femoral Agenesis in 3-month-old Baby: A Case Report

Emiliana Susanti Foris
Department of Child Health, Dr TC Hillers General Hospital, Sikka, East Nusa Tenggara, Indonesia

Abstract
Background Bilateral congenital femoral agenesis is a rare congenital anomaly. To the best of our knowledge,
only three cases of simple congenital anomaly, three cases associated with femoral facial syndrome, have
been reported. We describe a simple form of bilateral femoral agenesis observed in 3-month-old female
baby without femoral facial syndrome and non-diabetic mother. Objective To report this case because it is
a rare case and needs proper evaluation and management. The majority of cases, however, are sporadic,
and therefore, the parents may be reassured that the risk of further offspring being affected is negligible
Case A 3-month-old female baby present with a complaint of short stature. The baby was born full term
spontaneous labour, 2570 gram vigorous and started to cry immediately after birth. The mother has no
history of diabetes, cigarette smoking, and exposure teratogens. The parents were not related by blood.
X-ray examination showed bilateral agenesis of femur, normal tibia and fibula, proximal of cruris in lateral
of acetabula. Conclusion Bilateral congenital femoral agenesis is a rare congenital anomaly. Although
commonly associated with maternal diabetes mellitus, most cases have no known cause.
Keywords: femoral agenesis; congenital deformity

330 KONIKA XVIII Abstract Book