This study reevaluates a surgical technique known as the Chula technique, previously reported in 1991 for correction of frontoethmoidal encephalomeningocele. From 1986 to 1999, 108 patients were operated on with this technique, which could remove the herniation mass, repair dural and bone defects, reconstruct the naso-orbital area, and restore aesthetic facial appearance in a single stage. Formal frontal craniotomy was not necessary. The result has been very satisfying in terms of safety, cure rate, and aesthetic outcome. Spontaneous improvement of lacrimal passage obstruction occurred in 85.2 percent of cases, and dacryocystorhinostomy was required in the rest. There was no mortality. Complications (e.g., wound infection, 6.5 percent; wire extrusion, 3.7 percent; meningitis, 2.8 percent; cerebrospinal fluid leakage, 2.8 percent; and postoperative increased intracranial pressure, 2.8 percent) were much less frequent than in other reports. With a mean follow-up period of 439 days (maximum, 12 years), there has been no recurrence.

Pfeiffer syndrome (PS) (MIM 101600) is one of the most common syndromic forms of craniosynostosis. It is characterized by craniosysnostosis, midface hypoplasia, broad and medially deviated thumbs, and great toes with partial syndactyly of the digits. Here, we described clinical and genetic features of 12 unrelated Thai individuals with PS. All 12 patients were sporadic, and advanced paternal age was found in 50% of the cases. Polymerase chain reaction sequencing of FGFR1 exon 5 and FGFR2 exons 8, 10, 15, 16, and 17 was performed in all PS patients and revealed 9 recurrent mutations in all patients. Most of the mutations clustered in exons 8 and 10 (9/12) accounting for 75% of PS cases. The most frequently detected mutation, p.S351C, was associated with the severe form of PS in the Thai population. Less frequent mutations in exons 16 (p.K641R) and 17 (p.G663E) were also identified. In addition, the p.P252R mutation in FGFR1 was detected in 1 PS patient with unilateral coronal craniosynostosis expanding the phenotypic spectrum of PS with this particular mutation. Knowing the mutation spectrum of the responsible genes could lead to the most effective strategy in identifying mutations causing Pfeiffer syndrome in the Thai population.

Given a lack of a comprehensive classification for the frontoethmoidal encephalomeningocele (FEEM), clinical, photographic, and computed tomography (CT) data of 23 nonoperated patients were reviewed. Extracranial pathological findings of interest included herniation masses, facial deformities, and frontonasal bone morphology. Intracranial pathological findings of interest included morphology of the anterior cranial floor and brain malformations. Stereographic software processed data from a new-generation CT scanner into three-dimensional pictures that revealed some interesting morphological findings not often appreciated (eg, herniation mass without underlying external bone defect; mass at location far from external bone defect ["sequestrated cephalocele"]; new type of external bone defect characterized by a combination of nasoethmoidal and naso-orbital defects; correlation between mass, external bone defect, and exit pathway of herniation). Given these observations plus current knowledge available in the medical literature, a new classification system was developed that covers phenotypes and severity of the disease. The "FEEM classification" is an alphanumeric system based on facial deformities, external bone defect, exit pathway of herniation, and malformation of brain. It was tested in 42 patients for usability and validity. When combined with a newly designed "FEEM diagram," relevant pathological findings can be recorded in an objective manner so that diagnosis becomes more precise and uniform and comparison of outcome is possible. It also emphasizes the fact that FEEM has a range of manifestations governed by dynamic interaction between structural defects and herniation. Each clinical entity is a final result of its own disease course (stable, progressive, or regressive FEEM), with a varying degree of communication between the external mass and the central nervous system.

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