Results 21 to 30 of about 665 (159)
General and oral aspects in Apert syndrome: report of a case [PDF]
, 2015 Background: The present paper describes the general and oral manifestations in a 32-year-old man previously diagnosed with Apert syndrome. Clinical examination revealed features of acrocephalosyndactyly.
Chimenos Küstner, Eduardo +5 more
core +6 more sources
Apert's syndrome: A rare craniofacial disorder
Journal of Indian Society of Pedodontics and Preventive Dentistry, 2020 Apert's syndrome (AS) which is a rare congenital disorder is a form of acrocephalosyndactyly. This syndrome is characterized by craniosynostosis, midface hypoplasia, and syndactyly of hands and feet.
Prajakta C Khelkar +3 more
doaj +1 more source
Seorang Anak Perempuan 1 Bulan Dengan Apert Syndrom (Acrocephalosyndactyly Syndrome Type 1)
, 2022 Latar Belakang Sindrom apert merupakan salah satu jenis acrocephalosyndactyly yang paling dikenal dan disebabkan oleh mutasi gen fibroblast growth factor receptors2 (FGFR2) Acrocephalosyndactyly didefinisikan sebagai sindrom kongenital ditandai dengan ...
Nareswari, T. (Tara) +1 more
core +2 more sources
Female infant with apert syndrome and high imperforate anus without fistula
Journal of Pediatric Surgery Case Reports, 2021 Apert syndrome (AS) is a rare type of congenital craniofacial dysmorphic and severe syndactyly of the hands and feet. Fibroblast growth factor receptor (FGFR) gene mutations are suspect to be involved in this anomaly.
Setya Mithra Hariastuti +3 more
doaj +1 more source
Clinical Case Reports, Volume 8, Issue 9, Page 1613-1617, September 2020., 2020 Pfeiffer syndrome is a rare genetic disorder with heterogenous phenotype and prognosis. Due to its diverse clinical presentation, it can easily be misdiagnosed. Where genetic testing still remains a challenge, antenatal sonogram can aid in early diagnosis.
Insiyah Amiji +8 more
wiley +1 more source
National Journal of Clinical Anatomy, 2015 Apert syndrome was described as a triad of craniosynostosis, syndactyly and maxillary hypoplasia. The incidence of Apert syndrome is approximately one in 50,000 births.
A Barman, B C Dutta, J K Sarkar
doaj +1 more source
Kleeblattschädel in Pfeiffer syndrome type II
Radiology Case Reports, 2020 Pfeiffer syndrome is an uncommon autosomal dominant disorder that results in craniosynostosis of multiple calvarial sutures with resulting abnormal facies and turribrachycephaly.
Cory M. Pfeifer, MD, MPH, MS
doaj +1 more source
Apert syndrome with frontonasal encephalocele [PDF]
, 1985 We describe a female infant with Apert syndrome (acrocephalosyndactyly, type I) and a frontonasal encephalocele with unremarkable family history.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/38238/1/1320210422_ftp ...
Waterson, John R. +7 more
core +1 more source
, 2021 Purpose/aim of the study: We report a rare case of autosomal dominant genetic syndrome "Pfeiffer", which is part of the group of acrocephalosyndactyly, with an annual incidence <1/100,000. Three forms are known.
Gentile, Mattia +11 more
core +1 more source
Apert syndrome: A Case report [PDF]
, 2014 Apert syndrome or Acrocephalosyndactyly is a rare congenital disorder that affects the craniofacial structures and the limbs and is characterized by bicoronal synostosis, midface hypoplasia and complex syndactyly of the hands and feet.
Nahrel, Rakesh, Kosam, Ajay
core +1 more source