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APERT SYNDROME (ACROCEPHALOSYNDACTYLY) [PDF]
Praxis medica, 2013 <p>Apert syndrome is named for the French physician, Eugen Apert who was, in 1906. described anomalous shape of the skull with coronary suture synostosis and hypoplasia sphenoethmoidmaxillary part of the face and fingers syndactyly of hands and feet. Apert syndrome accounts for about 4,5% of all craniosynostosis.
Milovanović J. +4 more
core +5 more sources
Journal of Indian Academy of Oral Medicine and Radiology, 2016 Apert's syndrome is a rare type I acrocephalosyndactyly syndrome characterized by craniosynostosis, severe syndactyly of the hands and feet, and dysmorphic facial features.
Tarun Kumar +3 more
doaj +2 more sources
Apert syndrome: Diagnostic and management problems in a resource-limited country
Pediatric Reports, 2019 Apert syndrome or acrocephalosyndactyly is a rare genetic disease characterized by craniofacial dysmorphism and syndactyly of the hands and feet. We report an observation in a 4-month-old female infant, whose father was 65 years old.
Makoura Barro +8 more
doaj +2 more sources
Diagnosis of Pfeiffer Syndrome with Umbilical Hernia
Pakistan Journal of Medicine and DentistryPfeiffer syndrome (PS) is a form of acrocephalosyndactyly, a group of rare genetic syndromes, and is characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations.
Bhesham Kumar Shahani +2 more
doaj +1 more source
Apert′s Syndrome: A Rare Case Report
Journal of Indian Academy of Oral Medicine and Radiology, 2010 Apert′s syndrome /Acrocephalosyndactyly is a rare, congenital disorder characterized by craniosynostosis, midfacial malformations and symmetrical syndactyly. It is caused by a genetic mutation in the FGFR2 gene on chromosome 10. Although the syndrome has
Madhura Dalal, Naresh C Soni
doaj +1 more source
PASIEN SINDROMA APERT YANG DILAKUKAN OPERASI FRONTO ORBITAL ADVANCEMENT SETELAH OCCIPITAL EXPANSION
Jurnal Rekonstruksi dan Estetik, 2022 Highlights: • Tindakan operasi occipital expansion diterapkan pada kasus Sindroma Apert untuk meluaskan area tengkorak, diikuti oleh fronto orbital advancement (FOA) guna meningkatkan baik fungsi maupun penampilan memperoleh hasil yang memuaskan ...
Almahitta Cintami Putria +2 more
doaj +2 more sources
Journal of Indian Society of Pedodontics and Preventive Dentistry, 2010 Apert syndrome (acrocephalosyndactyly) is a rare developmental malformation characterized by craniosynostosis, mid-face hypoplasia, symmetrical syndactyly of hands and feet. The prodromal characteristics for the typical cranio-facial appearance are early
Premalatha, Kannan V, Madhu
doaj +1 more source
Acta Paediatrica, Volume 112, Issue 6, Page 1312-1318, June 2023., 2023 Abstract Aim The aim of the study was to describe the clinical manifestations of 22q11.2 deletion syndrome patients in the Finnish paediatric population. Methods Nationwide registry data including all diagnoses and procedures of every public hospital in Finland between 2004 and 2018 along with mortality and cancer registry data were retrieved. Patients
Sakari Wahrmann +3 more
wiley +1 more source
De Novo Heterozygous Mutation in FGFR2 Causing Type II Pfeiffer Syndrome
Case Reports in Genetics, Volume 2022, Issue 1, 2022., 2022 Pfeiffer syndrome (PS) is an autosomal dominant disorder with three subtypes stemming from heterozygous mutations in the fibroblast growth factors FGFR1 and FGFR2. The subtypes overlap with heterogeneous clinical manifestations and variable prognosis dependent on neurological and respiratory compromise that impact short‐ and long‐term outcomes and ...
Rafat Mosalli +5 more
wiley +1 more source