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

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, proptosis and down slanting palpebral fissures. Hypertelorism was present with an inner canthal distance of 2.2 cm (>97th percentile) and an outer canthal distance of 6 cm (>97th percentile). The nasal tip was pointed with a flattened nasal bridge. A midline cleft palate was present. Limb features consistent with PS included broad radially deviated thumbs and broad medially deviated halluces. The hand length was 5.2 cm (97th percentile), the midfinger length was 2 cm (50th percentile) and the foot length was 6 cm (75th percentile). A prominent coccyx was also noted and the male genitalia were normal for gestation.