Prenatal diagnosis of the Cerebro-Oculo-Facio-Skeletal (COFS) syndrome

D. Paladini, M. D'Armiento, I. Ardovino, P. Martinelli

Research output: Contribution to journalArticlepeer-review


Background: The Cerebro-Ocular-Facio-Skeletal (COFS) syndrome is an autosomal recessive condition characterized by neurogenic arthrogryposis, severe facial anomalies and brain maldevelopment. We describe here the first case of prenatal diagnosis of this syndrome in a 21-week fetus. Case: The woman was referred to our unit on suspicion of fetal microphthalmia. On trans-abdominal ultrasound, severe bilateral microphthalmia was confirmed. Micrognathia, multiple joint contractures and rockerbottom feet were also detected. On the basis of these findings, the diagnosis of COFS syndrome was hypothesized. After termination of pregnancy, necropsy confirmed all prenatal findings. Histology showed severe architectural derangement of the eye and brain together with cerebellar anomalies compatible with the diagnosis of COFS syndrome. Conclusions: To the best of our knowledge, this represents the first case of prenatal diagnosis of COFS syndrome. This case demonstrates the feasibility of such a diagnosis by ultrasound and identifies the malformations already present and detectable at mid-gestation.

Original languageEnglish
Pages (from-to)91-93
Number of pages3
JournalUltrasound in Obstetrics and Gynecology
Issue number1
Publication statusPublished - 2000


  • Arthrogryposis
  • COFS
  • Fetus
  • Microphthalmia
  • Prenatal diagnosis
  • Ultrasound

ASJC Scopus subject areas

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


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