Abstract
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 language | English |
|---|---|
| Pages (from-to) | 91-93 |
| Number of pages | 3 |
| Journal | Ultrasound in Obstetrics and Gynecology |
| Volume | 16 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - 2000 |
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Keywords
- 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
Cite this
Prenatal diagnosis of the Cerebro-Oculo-Facio-Skeletal (COFS) syndrome. / Paladini, D.; D'Armiento, M.; Ardovino, I.; Martinelli, P.
In: Ultrasound in Obstetrics and Gynecology, Vol. 16, No. 1, 2000, p. 91-93.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Prenatal diagnosis of the Cerebro-Oculo-Facio-Skeletal (COFS) syndrome
AU - Paladini, D.
AU - D'Armiento, M.
AU - Ardovino, I.
AU - Martinelli, P.
PY - 2000
Y1 - 2000
N2 - 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.
AB - 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.
KW - Arthrogryposis
KW - COFS
KW - Fetus
KW - Microphthalmia
KW - Prenatal diagnosis
KW - Ultrasound
UR - http://www.scopus.com/inward/record.url?scp=0034548489&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0034548489&partnerID=8YFLogxK
U2 - 10.1046/j.1469-0705.2000.00150.x
DO - 10.1046/j.1469-0705.2000.00150.x
M3 - Article
C2 - 11084975
AN - SCOPUS:0034548489
VL - 16
SP - 91
EP - 93
JO - Ultrasound in Obstetrics and Gynecology
JF - Ultrasound in Obstetrics and Gynecology
SN - 0960-7692
IS - 1
ER -