Pfeiffer syndrome type 2

Abstract

Introduction: Pfeiffer syndrome is an autosomal dominant disorder with an incidence of 1 in 100,000 newborns, which is characterized by craniosynostosis, besides hand and foot malformations. Clinical case: 26-day-old female, daughter of first pregnancy; 18-year-old mother and 23-year-old father, without consanguinity or inbreeding. It was obtained at term. Physical examination: Cloverleaf skull, wide anterior fontanelle, wide forehead, bitemporal narrowing, hypoplastic supraorbital arches, and bilateral ocular proptosis. Upper extremities: Broad thumbs, bilateral fifth finger clinodactyly. Lower extremities: Broad first toes, bilateral fifth toe clinodactyly. Skull CT scan: Fusion of the lambdoid, sagittal, and coronal sutures, ventricular asymmetry, with decreased density of the brain parenchyma, and cerebellar hypoplasia. At 35 days of life the patient died. Conclusion: Clinical and prognostic spectrum of patients with Pfeiffer syndrome is wide and depends on the type of mutation in FGFR1 and FGFR2 genes. These patients require multidisciplinary management.