Apert syndrome is an uncommon congenital disorder characterized by malformation of the skull in association with symmetrical syndactyly of both hands and feet. This syndrome is autosornal dominant. The original description was presented by Apert in 1906. Since then more than 200 cases have been reported in the world. Recently, we experienced a case of newhorn male infant with congenital anomalies of the skull and extremities. Molecular biologically, he was found to have Ser252Try mutation in the FGFR2 exonIIIa. A brief review of literature was made.
Acrocephalosyndactylia ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Extremities ; Fibroblast Growth Factors* ; Fibroblasts* ; Foot ; Hand ; Humans ; Infant ; Male ; Receptor, Fibroblast Growth Factor, Type 2* ; Receptors, Fibroblast Growth Factor* ; Skull ; Syndactyly

No abstract available.
Diagnosis, Differential ; Doxycycline/therapeutic use ; Female ; Guillain-Barre Syndrome/*diagnosis/pathology ; Humans ; Immunoglobulins/therapeutic use ; Male ; Middle Aged ; Respiration, Artificial ; Respiratory Insufficiency/*diagnosis/pathology ; Scrub Typhus/*diagnosis/pathology

BACKGROUND: Healthy skin is an important determinant of the quality of life and physical and mental well-being. The demand for dermatological information is increasing not only in patients with skin diseases, but also in the general population with normal/healthy skin. However, public perception and behavior with regard to skin health among Koreans are not known. OBJECTIVE: To examine public perception and behaviors with regard to skin health in Koreans visiting the Skin Health Expo 2017. METHODS: A total of 597 participants completed a questionnaire that assessed demographics, status, and behavior for skin health and Expo satisfaction. RESULTS: Respondents with higher stress levels and a history of skin diseases showed lower satisfaction with self-skin health. Most participants considered adequate sleep and water intake to be important factors associated with healthy skin. One-on-one consultation with dermatologists was the most satisfactory among participants at the Expo. CONCLUSION: Educational tools using mass media and informative activities such as the Expo planned by dermatologists and the government are necessary to spread awareness and provide proper information to improve skin health in the general population and to emphasize the key role of dermatologists in skin disorders with a social burden.
Demography ; Drinking ; Humans ; Korea* ; Mass Media ; Quality of Life ; Research Report* ; Skin Diseases ; Skin* ; Surveys and Questionnaires