Pfeiffer syndrome with neonatal death secondary to tracheal obstruction owing to the FGFR2 Glu565Ala mutation.

Abstract

We report a second patient with tracheal sleeve associated with an FGFR2 p.Glu565Ala mutation. This report describes a 30-week gestation male infant with Pfeiffer syndrome (PS) who died in the neonatal period with upper respiratory obstruction with three failed attempts at intubation before the onset of subcutaneous emphysema. The birth weight was 1510 g (75th-90th percentile), length was 41 cm (50th-75th percentile) and head circumference was 30.5 cm (97th percentile). A clinical diagnosis of PS was made at birth based on the presence of a clover-leaf skull, midface hypoplasia, lowset ears and a flat forehead. Additional craniofacial abnormalities noted included bilateral periorbital oedema..

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