Article
Pfeiffer syndrome: literature review of prenatal sonographic findings and genetic diagnosis.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians - 1 Sept 2017
Giancotti Antonella, D'Ambrosio Valentina, Marchionni Enrica, Squarcella Antonia, Aliberti Camilla, La Torre Renato, Manganaro Lucia, Pizzuti Antonio
Abstract excerpt
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...
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