Autopsy, radiographic, and prental ultrasonographic examination of a stillborn fetus with femoral facial syndrome

J. E. Urban, R. M. Ramus, M. W. Stannard, B. B. Rogers

Research output: Contribution to journalArticle

10 Scopus citations

Abstract

Femoral facial syndrome (FFS) is comprised of cleft palate, mierognathia, short or absent femora, and vertebral and genitourinary malformations. We report on a stillborn fetus with FFS delivered to a mother with gestational diabetes. Prenatal ultrasound examination showed abnormalities at 21 weeks of gestation; prior ultrasound findings were interpreted as normal. Long bone histology showed disorganization of the growth plate with a relative decrease in cartilaginous matrix and vacuolization and binucleation of the chondrocytes.

Original languageEnglish (US)
Pages (from-to)76-79
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume71
Issue number1
StatePublished - Dec 1 1997

Keywords

  • Autopsy
  • Femoral facial syndrome
  • Femoral hypoplasia-unusual faciès syndrome
  • Histology
  • Radiographs
  • Ultrasound

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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