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

✍ Scribed by Urban, Jill E.; Ramus, Ronald M.; Stannard, Michael W.; Rogers, Beverly Barton

Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
27 KB
Volume
71
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19970711)71:1<76::aid-ajmg14>3.0.co;2-s

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✦ Synopsis

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. Am. J. Med. Genet. 71:76-79, 1997.

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