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, Roderick M. Santos

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

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
Volume38
Issue number5
DOIs
StatePublished - Nov 2011
Externally publishedYes

Fingerprint

Thigh
Prenatal Diagnosis
Pregnancy
Three-Dimensional Imaging
Femur
Counseling
Ultrasonography
Differential Diagnosis
Extremities

Keywords

  • Congenital
  • Femoral deficiency
  • Fetus
  • Ultrasound

ASJC Scopus subject areas

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

Cite this

Prenatal diagnosis of unilateral proximal femoral focal deficiency at 19 weeks' gestation : Case report and review of the literature. / Mailath-Pokorny, M.; Timor-Tritsch, I. E.; Monteagudo, A.; Mittal, K.; Konno, F.; Santos, Roderick M.

In: Ultrasound in Obstetrics and Gynecology, Vol. 38, No. 5, 11.2011, p. 594-597.

Research output: Contribution to journalArticle

Mailath-Pokorny, M. ; Timor-Tritsch, I. E. ; Monteagudo, A. ; Mittal, K. ; Konno, F. ; Santos, Roderick M. / Prenatal diagnosis of unilateral proximal femoral focal deficiency at 19 weeks' gestation : Case report and review of the literature. In: Ultrasound in Obstetrics and Gynecology. 2011 ; Vol. 38, No. 5. pp. 594-597.
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