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.

Pfeiffer syndrome: literature review of prenatal sonographic findings and genetic diagnosis / Giancotti, Antonella; D'Ambrosio, Valentina; Marchionni, Enrica; Squarcella, Antonia; Aliberti, Camilla; LA TORRE, Renato; Manganaro, Lucia; Pizzuti, Antonio. - In: THE JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE. - ISSN 1476-4954. - ELETTRONICO. - 30:18(2017), pp. 2225-2231. [10.1080/14767058.2016.1243099]

Pfeiffer syndrome: literature review of prenatal sonographic findings and genetic diagnosis

GIANCOTTI, Antonella;D'AMBROSIO, VALENTINA;MARCHIONNI, ENRICA;SQUARCELLA, ANTONIA;ALIBERTI, CAMILLA;LA TORRE, Renato;MANGANARO, Lucia;PIZZUTI, Antonio
2017

Abstract

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.
FGFR1; FGFR2; pfeiffer syndrome; cloverleaf skull; prenatal diagnosis
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Pfeiffer syndrome: literature review of prenatal sonographic findings and genetic diagnosis / Giancotti, Antonella; D'Ambrosio, Valentina; Marchionni, Enrica; Squarcella, Antonia; Aliberti, Camilla; LA TORRE, Renato; Manganaro, Lucia; Pizzuti, Antonio. - In: THE JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE. - ISSN 1476-4954. - ELETTRONICO. - 30:18(2017), pp. 2225-2231. [10.1080/14767058.2016.1243099]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/907214
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