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.

        · resumen en Español     · texto en Español     · Español ( pdf )