TY - JOUR
T1 - Pfeiffer syndrome
T2 - literature review of prenatal sonographic findings and genetic diagnosis
AU - Giancotti, Antonella
AU - D’Ambrosio, Valentina
AU - Marchionni, Enrica
AU - Squarcella, Antonia
AU - Aliberti, Camilla
AU - La Torre, Renato
AU - Manganaro, Lucia
AU - Pizzuti, Antonio
AU - PECRAM Study Group
PY - 2017/9/17
Y1 - 2017/9/17
N2 - Purpose: Pfeiffer syndrome (PS) is an autosomal dominant disorder caused by mutations in FGFR1 and FGFR2 genes. Given its wide range of clinical expression and severity, early prenatal diagnosis is difficult and genetic counseling is desirable. We report a literature review of all prenatal diagnosis of PS and a case report, with a focused description of ultrasound findings. Methods: After literature search, we selected 14 studies of antenatal diagnosis of PS. Prenatal ultrasound findings, outcome, maternal and obstetrical data and genetic tests were recorded and analyzed. Results: A total of 18 cases including the one we present were selected. Among the most frequent sonographic features, skull shape anomalies were evident in 72.2% of cases, nasal abnormalities in 50%, proptosis and hypertelorism in 44.4% and frontal bossing in 22.2%. Thumbs’ anomalies were present in 33.3% of cases and toes’ abnormalities in 38.9%. In all cases, postnatal or postmortem examination confirmed the prenatal diagnosis of PS. Conclusions: We provide a literature review of prenatal diagnosis of PS to identify ultrasound features that may be supportive in the diagnosis of this rare disease, helping in making a differential diagnosis with the other possible craniosynostosis syndromes and in suggesting gene molecular testing.
AB - Purpose: Pfeiffer syndrome (PS) is an autosomal dominant disorder caused by mutations in FGFR1 and FGFR2 genes. Given its wide range of clinical expression and severity, early prenatal diagnosis is difficult and genetic counseling is desirable. We report a literature review of all prenatal diagnosis of PS and a case report, with a focused description of ultrasound findings. Methods: After literature search, we selected 14 studies of antenatal diagnosis of PS. Prenatal ultrasound findings, outcome, maternal and obstetrical data and genetic tests were recorded and analyzed. Results: A total of 18 cases including the one we present were selected. Among the most frequent sonographic features, skull shape anomalies were evident in 72.2% of cases, nasal abnormalities in 50%, proptosis and hypertelorism in 44.4% and frontal bossing in 22.2%. Thumbs’ anomalies were present in 33.3% of cases and toes’ abnormalities in 38.9%. In all cases, postnatal or postmortem examination confirmed the prenatal diagnosis of PS. Conclusions: We provide a literature review of prenatal diagnosis of PS to identify ultrasound features that may be supportive in the diagnosis of this rare disease, helping in making a differential diagnosis with the other possible craniosynostosis syndromes and in suggesting gene molecular testing.
KW - cloverleaf skull
KW - FGFR1
KW - FGFR2
KW - Pfeiffer syndrome
KW - prenatal diagnosis
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UR - http://www.scopus.com/inward/citedby.url?scp=85021696425&partnerID=8YFLogxK
U2 - 10.1080/14767058.2016.1243099
DO - 10.1080/14767058.2016.1243099
M3 - Review article
AN - SCOPUS:85021696425
VL - 30
SP - 2225
EP - 2231
JO - Journal of Maternal-Fetal and Neonatal Medicine
JF - Journal of Maternal-Fetal and Neonatal Medicine
SN - 1476-7058
IS - 18
ER -