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

Autor: Michael W. Stannard, Ronald M. Ramus, Beverly Barton Rogers, Jill E. Urban
Rok vydání: 1997
Předmět:
Zdroj: American Journal of Medical Genetics. 71:76-79
ISSN: 1096-8628
0148-7299
DOI: 10.1002/(sici)1096-8628(19970711)71:1<76::aid-ajmg14>3.0.co;2-s
Popis: 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.
Databáze: OpenAIRE