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apert syndrome diagnosed by prenatal ultrasound combined with magnetic resonance imaging and whole exome sequencing:A case report

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World Journal of Clinical Cases 2021年第4期9卷 912-918页

作者： Lei Chen Fei-Xiang Huang Ultrasonography Department Hangzhou Women’s HospitalHangzhou 310008Zhejiang ProvinceChina Department of Traditional Chinese Medicine Hangzhou Women’s HospitalHangzhou 310008Zhejiang ProvinceChina

BACKGROUND Most cases of apert syndrome(AS)are found after *** of AS diagnosed by ultrasound combined with magnetic resonance imaging(MRI)and whole exome sequencing(WES)during pregnancy are *** SUMMARY We present the case of a 34-year old female patient(gravida 2,para 1)whose fetus was diagnosed with AS during *** ultrasound performed at 30,2/7 wk of pregnancy showed *** and three-dimensional ultrasound performed at 31,1/7 wk of pregnancy showed the possibility of *** examination and core family WES were conducted at 31,5/7 wk of *** results showed that FGFR2 in the fetus had a c.755C>G missense mutation in its nucleotide,and AS was *** This case highlights the importance of imaging *** ultrasound combined with MRI can identify fetal morphological abnormalities accurately,which can be confirmed by WES.

关键词： apert syndrome Prenatal ultrasound Magnetic resonance imaging Whole exome sequencing FGFR2 Case report

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apert syndrome: A Case Report and Review of Literature

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Open Journal of Pediatrics 2016年第2期6卷 175-184页

作者： Simon Pius Halima Abubakar Ibrahim Mustapha Bello Kefas Mbaya Jose Pwavimbo Ambe Dapartment of Paediatrics University of Maiduguri Teaching Hospital Maiduguri Nigeria Department of Surgery University of Maiduguri Teaching Hospital Maiduguri Nigeria

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.

关键词： apert syndrome Congenital Malformations Autosomal Dominant Premature Fusion of Sutures Hoof/Rosebud Hand

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The molecular and cellular basis of apert syndrome

The molecular and cellular basis of Apert syndrome

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第八届全国医学生物化学与分子生物学第五届全国临床应用生...

作者： Liu Chao Cui YaZhou Luan Jing Zhou XiaoYan Han JinXiang Shandong Academy of Medical Sciences Shandong Medical Biotechnology CenterKey Laboratory for Biotech-Drugs of the Ministry of Health

apert syndrome(AS) is an autosomal dominant *** by craniosynostosis,midface hypoplasia,and severe syndactyly of the hands and feet,with a prevalence of 1 in 65,000 *** patients generally require lifelong multidisciplinary *** the last several *** studies have been done to gain a better understanding of molecular basis of the *** balance between the proliferation,differentiation and apoptosis of osteoblasts is essential for the cranial bone and limb *** fgfr2 gain-of-function mutation(S252 W and P253 R) which caused most apert syndromes alter the *** this ***’ll focus on how the mutated fgfr2 change the balance and their signal *** will provide us a new insight into the pathogenesis of the apert syndrome.

关键词： apert syndrome Fgfr2 Osteoblast pathogenesis

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apert’s syndrome:Study by whole exome sequencing

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Genes & Diseases 2018年第2期5卷 119-122页

作者： Anjana Munshi Preeti Khetarpal Satrupa Das Venkateshwar Rao Monica Valecha Manita Bansal Roshan Kumar Centre for Human Genetics and Molecular Medicine School of Health SciencesCentral University of PunjabBathindaPunjabIndia Institute of Genetics and Hospital for Genetic Diseases Osmania UniversityBegumpetHyderabadIndia Dr.NTR University of Health Sciences VijayawadaAndhra PradeshIndia Positive Bioscience Ltd. MumbaiIndia Dept.of Paediatrics Civil HospitalBathindaPunjabIndia

In the present study we attempted a parente-child trio,whole exome sequencing(WES)approach to study apert’s *** characteristics of the child were noted down and WES was carried out using Ion Torrent System that revealed the presence of previously reported P253R mutation in FGFR2 *** of two SNPs rs1047057 and rs554851880 in FGFR2 gene with an allelic frequency of 0.5113 and 0.001176 respectively and 161 complete damaging mutations were *** study is the first reported case of exome sequencing approach on an apert’s syndrome patient aimed at providing better genetic counselling in a non-consanguineous relationship.

关键词： apert syndrome Craniosynostosis Exome sequencing FGFR2 gene Parente-child trio study

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