摘要
Apert syndrome, also known as acrocephalosyndactyly, is one of the causes of craniofacial syndrome or deformity. It is a rare congenital disorder characterized by premature fusion of cranial sutures (craniosynostosis), malformation of skull, hands, face and feet. This congenital deformity has incidence of 1/50,000 to 1/80,000 live births and is an autosomal dominant in inheritance. Apert syndrome, fibroblast growth factor receptor 2 (FGFR2) and the missense substitution mutations occur at adjacent amino acids (i.e. Ser252Trp, Ser 252Phe, Pro253Arg) between the second and third extra cellular immunoglobulin domain of FGFR2, which maps to chromosome bands 10q26. Increased paternal age has been implicated in the development of Apert syndrome. The syndrome has to be thoroughly evaluated as early definitive diagnosis is important in order to distinguish Apert syndrome from other forms of craniosynostosis like Carpenter syndrome, Crouzon disease, Pfeiffer and Saethre-Chotzen syndrome. It is generally accepted that management of Apert syndrome is multidisciplinary in approach, which should compose of neonatologists, neurosurgeons, craniofacial surgeons, plastic surgeons, otolaryngologists, orthodontists, orthopaedic surgeons, ophthalmologists, radiologists, geneticists, clinical psychologists and speech and language pathologists for the effective management of this condition. Early diagnosis and treatment is important because Apert syndrome when treated early has good prognosis in adult life.
Apert syndrome, also known as acrocephalosyndactyly, is one of the causes of craniofacial syndrome or deformity. It is a rare congenital disorder characterized by premature fusion of cranial sutures (craniosynostosis), malformation of skull, hands, face and feet. This congenital deformity has incidence of 1/50,000 to 1/80,000 live births and is an autosomal dominant in inheritance. Apert syndrome, fibroblast growth factor receptor 2 (FGFR2) and the missense substitution mutations occur at adjacent amino acids (i.e. Ser252Trp, Ser 252Phe, Pro253Arg) between the second and third extra cellular immunoglobulin domain of FGFR2, which maps to chromosome bands 10q26. Increased paternal age has been implicated in the development of Apert syndrome. The syndrome has to be thoroughly evaluated as early definitive diagnosis is important in order to distinguish Apert syndrome from other forms of craniosynostosis like Carpenter syndrome, Crouzon disease, Pfeiffer and Saethre-Chotzen syndrome. It is generally accepted that management of Apert syndrome is multidisciplinary in approach, which should compose of neonatologists, neurosurgeons, craniofacial surgeons, plastic surgeons, otolaryngologists, orthodontists, orthopaedic surgeons, ophthalmologists, radiologists, geneticists, clinical psychologists and speech and language pathologists for the effective management of this condition. Early diagnosis and treatment is important because Apert syndrome when treated early has good prognosis in adult life.
