A case of Pfeiffer syndrome type 1 with an A344P mutation in the FGFR2 gene.

Pfeiffer syndrome, an autosomal dominant disorder, consists of craniosynostosis, broadening of the thumbs and great toes, and partial soft tissue syndactyly of the hands and feet. Three clinical subtypes have been classified mainly for the purpose of genetic counseling. Mutations in FGFR1 and FGFR2 are known to be associated with the syndrome. However, the correlation between genotype and phenotype is not well defined. Only one patient with Pfeiffer syndrome with no other clinical information has been reported to have had an A344P mutation of the FGFR2. Here we report a Thai male patient with sporadic Pfeiffer syndrome type 1 with impaired intelligence (IQ = 77). Mutation analysis revealed A344P in FGFR2. Identification of the clinical features and molecular defects in more patients is required to better correlate the genotype and phenotype of this complex syndrome.

Mandibular distraction osteogenesis in unilateral craniofacial microsomia: preliminary report.

At present, Ilizarov's distraction principle becomes applicable in craniofacial surgery. We would like to present a report of mandibular lengthening by distraction osteogenesis that has been performed in 4 Thai children with unilateral craniofacial microsomia in King Chulalongkorn Memorial hospital from 1996 to 1997. The distraction process was composed of latency, distraction, and consolidation phases. After the latency period, the distraction was performed by a patient's family member at home at the rate of 1 millimeter per day. Facial asymmetry and malocclusion were improved in all cases after the process was completed. No complication was experienced. No relapse or complication was detected after a mean follow-up period of 99.5 weeks. However, more cases and longer follow-up are needed before any conclusion can be made.