标题:
Apert Syndrome: A Case Report and Review of Literature
作者:
Simon Pius, Halima Abubakar Ibrahim, Mustapha Bello, Kefas Mbaya, Jose Pwavimbo Ambe
关键词:
Apert Syndrome, Congenital Malformations, Autosomal Dominant, Premature Fusion of Sutures, Hoof/Rosebud Hand
期刊名称:
Open Journal of Pediatrics,
Vol.6 No.2,
June
9,
2016
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.