pfeiffer syndrome การใช้

• This mechanism is found in patients with Crouzon and Pfeiffer syndrome.
• Pfeiffer syndrome is utterly different from achondroplasia, yet its characteristics are equally distinctive.
• The cranial bones are affected as well, similar to Crouzon syndrome and Pfeiffer syndrome.
• "You'd recognize Pfeiffer syndrome immediately once you've seen it,"
• Examples include the craniosynostosis syndromes such as Crouzon syndrome, Pfeiffer syndrome, Treacher Collins and Antley-Bixler syndrome.
• Muenke, for example, decided after seeing his first patient with Pfeiffer syndrome in the mid-1980s that he would someday seek the root cause of it.
• The child, born in October ( about 1 month before the album's release ), suffered from Pfeiffer syndrome type 2, a rare skull disease, and died shortly after birth.
• In people with Pfeiffer syndrome, the thumbs and first ( big ) toes are wide and bend away from the other digits ( pollex varus and hallux varus ).
• The child, Ahmir ( listed as " Boy Gregory " on intake records ) was born on 16 October 1996, and died a week later due to Pfeiffer syndrome, which is rare skull defect.
• "This has been the most exciting time of my entire career, " said Dr . Maximilian Muenke of the University of Pennsylvania School of Medicine in Philadelphia, the lead author on the report about Pfeiffer syndrome.
• In the year following the Williams discovery, a group of genes was found that contributes to several other developmental disorders, including Crouzon syndrome and Pfeiffer syndrome, which produce distorted skulls and, in the latter case, deformities of the thumbs and big toes.
• On the other hand, said Muenke, he had talked with families with Pfeiffer syndrome patients who would want to know ahead of time whether their baby had inherited the trait, not because they would abort it, but to prepare for the birth by moving close to a medical center where the infant could receive the best surgical care.
• And in Tuesday's issue of Nature Genetics, two different teams announce yet more evidence of malfeasance among the growth factor receptor clan : in one case, scientists said a mutation in the gene for fibroblast growth factor receptor 1 causes Pfeiffer syndrome, which also leads to the untimely fusion of the cranial sutures, but in addition makes the thumbs and toes very wide.