Pfeiffer syndrome: literature review of prenatal sonographic findings and genetic diagnosis
01 Pubblicazione su rivista
Giancotti Antonella, D'Ambrosio Valentina, Marchionni Enrica, Squarcella Antonia, Aliberti Camilla, LA TORRE Renato, Manganaro Lucia, Pizzuti Antonio
ISSN: 1476-4954
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.