Prenatal diagnosis of unilateral proximal femoral focal deficiency at 19 weeks' gestation: Case report and review of the literature

M. Mailath-Pokorny, I. E. Timor-Tritsch, A. Monteagudo, K. Mittal, F. Konno, R. Santos

Research output: Contribution to journalArticle

6 Scopus citations


Proximal femoral focal deficiency (PFFD) represents a rare and complex deformity manifested by hypoplasia of a variable portion of the femur with shortening of the entire limb. The condition may be unilateral or bilateral and is often associated with other congenital anomalies. Recent technological advances in ultrasound imaging offer the opportunity to detect an increasing number of rare skeletal malformation syndromes whose correct diagnosis is essential for adequate counseling and management of the pregnancy. We report a case of fetal non-familial PFFD diagnosed prenatally using two-dimensional and three-dimensional images. Clinical findings, differential diagnosis and management of this rare skeletal dysplasia are discussed and a review of the recent literature is given.

Original languageEnglish (US)
Pages (from-to)594-597
Number of pages4
JournalUltrasound in Obstetrics and Gynecology
Issue number5
Publication statusPublished - Nov 1 2011
Externally publishedYes



  • Congenital
  • Femoral deficiency
  • Fetus
  • Ultrasound

ASJC Scopus subject areas

  • Radiological and Ultrasound Technology
  • Reproductive Medicine
  • Radiology Nuclear Medicine and imaging
  • Obstetrics and Gynecology

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