title: Prenatal diagnosis of proximal femoral focal deficiency: a case report and literature review.
abstract: OBJECTIVE
  To present a rare case of fetal nonfamilial proximal femoral focal deficiency (PFFD) diagnosed as early as 21 weeks' gestation.
  
  
  METHODS
  A 32-year-old woman was referred to our hospital at 21 weeks' gestation. An ultrasound examination revealed isolated unilateral short femur (right femur = 27.3 mm and left femur = 37.9 mm). 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Dianthus Maternal Fetal Medicine Clinic, Taipei City, Taiwan.
authors.forename: Tzu-Hung
authors.initials: TH
authors.lastname: Lin
authors.forename: Chi-Hsien
authors.initials: CH
authors.lastname: Chung
authors.forename: Jin-Chung
authors.initials: JC
authors.lastname: Shih
authors.forename: Chia-Hui
authors.initials: CH
authors.lastname: Lin
authors.forename: Chien-Nan
authors.initials: CN
authors.lastname: Lee
authors.forename: Yi-Ning
authors.initials: YN
authors.lastname: Su
mesh_terms: D000328:Adult; D017809:Fatal Outcome; D005260:Female; D005269:Femur / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005313:Fetal Death; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D005865:Gestational Age; D006801:Humans; D011247:Pregnancy; D011859:Radiography; D016216:Ultrasonography, Prenatal
keywords: isolated short femur; proximal femoral focal deficiency; ultrasound; unilateral short femur