De Novo Heterozygous Mutation in FGFR2 Causing Type II Pfeiffer Syndrome

Figure 2

(a) Oropharyngeal airway to correct airway obstruction, long bones with proximal rhizomelia, and severe right eye proptosis. (b) Mid-facial hypoplasia, brachycephaly, cloverleaf skull, and bilateral ocular proptosis more severe on the right with absent eyelids (c) Broad thumb with medial deviation of the fingers.

(a)

(b)

(c)