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Prenatal diagnosis of the Cerebro‐Oculo‐Facio‐Skeletal (COFS) syndrome
Author(s) -
Paladini D.,
D'Armiento M.,
Ardovino I.,
Martinelli P.
Publication year - 2000
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1046/j.1469-0705.2000.00150.x
Subject(s) - medicine , prenatal diagnosis , cerebro , pediatrics , genetics , fetus , pregnancy , biology
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. Copyright © 2000 International Society of Ultrasound in Obstetrics and Gynecology