Prenatal diagnosis of proximal femoral focal deficiency: A case report andliterature review
Journal
Taiwanese Journal of Obstetrics and Gynecology
Journal Volume
52
Journal Issue
2
Pages
267-269
Date Issued
2013
Author(s)
Abstract
Objective: To present a rare case of fetal nonfamilial proximal femoral focal deficiency (PFFD) diagnosed as early as 21 weeks' gestation. Case Report: A 32-year-old woman was referred to our hospital at 21 weeks' gestation. An ultrasound examination revealed isolated unilateral short femur (right femur=27.3mm and left femur=37.9mm). The measurements of all the remaining long bones were within the normal range. The facial profile was unremarkable. Results of amniocentesis revealed a normal 46,XX female karyotype. A follow-up ultrasound 2 weeks later demonstrated further discrepancy in femoral length. A diagnosis of PFFD was made. The parents were well informed about the treatment options and after counseling they decided to terminate the pregnancy. A postmortem X-ray examination confirmed the diagnosis of PFFD. Conclusion: We have to measure both sides of extremities according to the ultrasound scan guidelines so as not to overlook any possible case of skeletal dysplasia. An advanced three-dimensional (3D) and 4D ultrasound evaluation of the bony structures and carefully observing the range of mention of the affect limbs will provide proper information to formulate a further therapeutic plan. ? 2013, Taiwan Association of Obstetrics & Gynecology.
SDGs
Other Subjects
adult; article; bone dysplasia; case report; echography; female; femur fracture; follow up; gestational age; human; patient referral; prenatal diagnosis; proximal femoral focal deficiency; radiodiagnosis; rare disease; isolated short femur; proximal femoral focal deficiency; ultrasound; unilateral short femur; Adult; Fatal Outcome; Female; Femur; Fetal Death; Fetal Diseases; Gestational Age; Humans; Pregnancy; Ultrasonography, Prenatal
Type
journal article