title: Pfeiffer syndrome: literature review of prenatal sonographic findings and genetic diagnosis.
abstract: OBJECTIVE
  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.
authors.affiliation: a Department of Obstetrics , Gynecology and Urologic Sciences, "Sapienza" University of Rome, Policlinico Umberto I Hospital.
authors.forename: Antonella
authors.initials: A
authors.lastname: Giancotti
authors.affiliation: a Department of Obstetrics , Gynecology and Urologic Sciences, "Sapienza" University of Rome, Policlinico Umberto I Hospital.|b Department of Experimental Medicine , "Sapienza" University of Rome, Policlinico Umberto I Hospital , and.
authors.forename: Valentina
authors.initials: V
authors.lastname: D'Ambrosio
authors.affiliation: b Department of Experimental Medicine , "Sapienza" University of Rome, Policlinico Umberto I Hospital , and.|d CSS-Mendel Laboratory , Rome , Italy.
authors.forename: Enrica
authors.initials: E
authors.lastname: Marchionni
authors.affiliation: a Department of Obstetrics , Gynecology and Urologic Sciences, "Sapienza" University of Rome, Policlinico Umberto I Hospital.
authors.forename: Antonia
authors.initials: A
authors.lastname: Squarcella
authors.affiliation: a Department of Obstetrics , Gynecology and Urologic Sciences, "Sapienza" University of Rome, Policlinico Umberto I Hospital.
authors.forename: Camilla
authors.initials: C
authors.lastname: Aliberti
authors.affiliation: a Department of Obstetrics , Gynecology and Urologic Sciences, "Sapienza" University of Rome, Policlinico Umberto I Hospital.
authors.forename: Renato
authors.initials: R
authors.lastname: La Torre
authors.affiliation: c Department of Radiological, Oncological and Anatomopathological Sciences , "Sapienza" University of Rome, Policlinico Umberto I Hospital , Rome , Italy , and.
authors.forename: Lucia
authors.initials: L
authors.lastname: Manganaro
authors.affiliation: b Department of Experimental Medicine , "Sapienza" University of Rome, Policlinico Umberto I Hospital , and.|d CSS-Mendel Laboratory , Rome , Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Pizzuti
mesh_terms: D000025:Abortion, Eugenic; D000168:Acrocephalosyndactylia / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D005865:Gestational Age; D006801:Humans; D007621:Karyotyping; D017880:Limb Deformities, Congenital; D008279:Magnetic Resonance Imaging; D009154:Mutation; D011296:Prenatal Diagnosis / Q000379:methods*; D011859:Radiography; D051496:Receptor, Fibroblast Growth Factor, Type 1 / Q000235:genetics; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics; D012886:Skull / Q000002:abnormalities; D014463:Ultrasonography; D055815:Young Adult
chemical_list: C496348:FGFR1 protein, human; D051496:Receptor, Fibroblast Growth Factor, Type 1; D051497:Receptor, Fibroblast Growth Factor, Type 2
keywords: FGFR1; FGFR2; Pfeiffer syndrome; cloverleaf skull; prenatal diagnosis