Apert and Pfeiffer Syndromes: A Report of Two Cases

Craniosysostosis syndrome is caused by premature fusion of bones of skull and face during fetal development. It is related to Fibroblast growth factor receptor gene and most common craniosynostosis syndromes are Apert, Pfeiffer and Crouzon. Apert syndrome is one of the severe type of craniosynostosis syndromes which shows mutations in the Fibroblast growth factor receptor 2 (FGFR2) gene. Pfeiffer syndrome is also related with FGFR 1 or 2 gene mutation. We experienced two patients with craniosynostosis syndromes, Apert syndrome and Pfeiffer syndrome. The first baby was a in-born female baby presented with syndactly of the hands and feet and facial dysmorphism including shallow orbit with deep crease above eye brow. Apert syndrome was confirmed by the presence of a mutation in FGFR2. The second patient visited our developmental delay clinic due to developmental delay at seven month old age. He showed facial dysmorphism including cloverleaf-shaped skull, micrognathia, low set ears, low nasal bridge and high-arched palate, but there were no syndactly or limb anomalies. He was suspected of Pfeiffer syndrome, however his FGFR2 gene study was normal. These patients need multidisciplinary team management and regular follow up for visual, auditory, and cognitive development functions Pediatricians have important role on recognizing the patients with facial dysmorphism, planning to evaluate accompanying anomalies and making appropriate decisions about the timing of surgical management to minimize growth and cognitive impairments.

A Study on Image Difference between University Hospitals and Corporation Hospitals / 예방의학회지

The objectives of this research are 1) to access different images held by three consumer groups (patients in university hospital, patients in corporation hospital, persons who are not currently visiting hospitals) on two types of hospitals(university hospitals and corporation hospitals), and 2) to investigate the personal factors affecting images of two types of hospitals. The data for this analysis were collected by questionnaire survey. A total of 403 interviews were conducted. Of these cases, 43 percent are male and 57 percent are female. The major statistical methods used for the analysis are paired t-test, factor analysis and multiple regression. The three consumer groups show a consensus that corporation hospitals are better than university hospitals in some aspects, such as kindness, facilities, and equipments. However, these groups disagree in certain images on two types of hospitals, such as popularity, credibility, and readiness for emergency. The images on two types of hospitals are varied by the respondents' sociodemographic characteristics such as age, sex, and by the type of hospital they are currently visiting.