macrostomia การใช้

• Environmental contaminants may play a role in causing macrostomia.
• Macrostomia is characterized as a physical abnormality that causes clefts to form on the face of affected individuals.
• Macrostomia is very irregular and on average occurs only once in every 150, 000 to 300, 000 live births.
• The cleft associated with macrostomia is associated with improper or failed fusion of the mandibular and maxillary processes during embryonic development.
• Alterations in this gene have been associated with nevoid basal cell carcinoma syndrome, basal cell carcinoma, medulloblastoma, and susceptibility to congenital macrostomia.
• PTCH2 ( Val147Ile ) is a loss of function mutation which results in a lack of control of cell growth during development and links it to macrostomia.
• Ablepharon-macrostomia Syndrome : ( AMS ) A rare genetic disorder characterized by various physical anomalies which affect the craniofacial area, the skin, the fingers, and the genitals.
• One sib appeared to have a lethal form of ablepharon-macrostomia syndrome ( AMS; 200110 ) or an intermediate phenotype between AMS and Fraser syndrome, and the other had classic Fraser syndrome.