Pfeiffer syndrome is a rare genetic disorder with heterogenous phenotype and prognosis. Due to its diverse clinical presentation, it can easily be misdiagnosed. Where genetic testing still remains a challenge, antenatal sonogram can aid in early diagnosis. The cranioorbito-faciostenosis demands aggressive management to permit survival instead of uniform early demise.
Keywords: Pfeiffer syndrome; choanal atresia; cloverleaf shaped skull; proptosis.
© 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.