Diagnosis of femoral hypoplasia-unusual facies syndrome in the fetus

D. Paladini, G. M. Maruotti, G. Sglavo, I. Penner, F. Leone, M. R. D'Armiento, P. Martinelli

Research output: Contribution to journalArticlepeer-review

Abstract

Femoral hypoplasia-unusual facies syndrome (FHUFS) is a rare condition characterized by a variable degree of unilateral or bilateral femoral hypoplasia associated with facial clefting and other minor malformations. The prenatal diagnosis of this condition is possible, but so far has been reported prospectively in only two cases. We review all cases of FHUFS reported in the literature and also describe three cases detected prenatally in the mid-trimester, underlining the variable expression of the syndrome. The reported association with maternal diabetes mellitus and differential diagnosis with other syndromes characterized by femoral hypoplasia are also discussed.

Original languageEnglish
Pages (from-to)354-358
Number of pages5
JournalUltrasound in Obstetrics and Gynecology
Volume30
Issue number3
DOIs
Publication statusPublished - Sep 2007

Keywords

  • Cleft lip
  • Femoral focal hypoplasia
  • Prenatal diagnosis
  • Ultrasound
  • Unusual facies

ASJC Scopus subject areas

  • Obstetrics and Gynaecology
  • Radiology Nuclear Medicine and imaging
  • Radiological and Ultrasound Technology
  • Reproductive Medicine
  • Acoustics and Ultrasonics

Fingerprint

Dive into the research topics of 'Diagnosis of femoral hypoplasia-unusual facies syndrome in the fetus'. Together they form a unique fingerprint.

Cite this