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

Abstract

Femoral facial syndrome (FFS) is comprised of cleft palate, micrognathia, 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.

• Authors: J E Urban, R M Ramus, M W Stannard, B B Rogers
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 71 Issue 1 Pg. 76-9 (Jul 11 1997) ISSN: 0148-7299 [Print] United States
• PMID: 9215773 (Publication Type: Case Reports, Journal Article)

Topics

• Adult
• Autopsy
• Cleft Palate (pathology)
• Diabetes, Gestational (complications)
• Face (abnormalities)
• Female
• Femur (abnormalities)
• Fetal Death (diagnostic imaging, pathology)
• Humans
• Male
• Pregnancy
• Radiography
• Spine (abnormalities)
• Syndrome
• Ultrasonography, Prenatal