[A case of Pfeiffer syndrome caused by FGFR2 gene variation].

A 29-month-old male child with FGFR2 heterozygous missense mutation at birth was diagnosed as Pfeiffer syndrome. He was treating for binocular exophthalmos and exposed keratitis in Beijing Tongren Hospital Affiliated to Capital Medical University. The child had skull fusion (clover head), obvious exophthalmos, deformity of fingers and toes, ankylosis of elbow joint or bony fusion, accompanied by neurological complications and growth retardation; FGFR2 (NM_001144916) gene c.679T>G (thymine>guanine) and p.c227gG(cysteine>glycine) heterozygous missense mutations were found in the the child, and his parents did not carry the same mutation. Pfeiffer syndrome type Ⅱ was diagnosed. Permanent adhesion of eyelid margin was performed under general anesthesia, and the postoperative condition was stable.