Results 21 to 30 of about 1,223,696 (186)

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

QS3: Influence Of Nonsyndromic Bicoronal Synostosis And Syndromic Influences On And Periorbital Malformation

Plastic and Reconstructive Surgery, Global Open, 2021
Background Oculo-orbital disproportion in patients with craniosynostosis have similarities and dissimilarities between syndromic and nonsyndromic cases. We hypothesize these two conditions have specific individual influences as it relates to development ...
Xiaona Lu, MD, PhD, Antonio Jorge Forte, MD, PhD, Michael Alperovich, MD, Nivaldo Alonso, MD, PhD, John A. Persing, MD   +4 more
doaj   +1 more source

Therapeutic effect of nanogel-based delivery of soluble FGFR2 with S252W mutation on craniosynostosis. [PDF]

PLoS ONE, 2014
Apert syndrome is an autosomal dominantly inherited disorder caused by missense mutations in fibroblast growth factor receptor 2 (FGFR2). Surgical procedures are frequently required to reduce morphological and functional defects in patients with Apert ...
Masako Yokota, Yukiho Kobayashi, Jumpei Morita, Hiroyuki Suzuki, Yoshihide Hashimoto, Yoshihiro Sasaki, Kazunari Akiyoshi, Keiji Moriyama   +7 more
doaj   +1 more source

Posterior vault distraction osteogenesis in Apert syndrome

Archives of Pediatric Neurosurgery, 2022
Apert syndrome is an uncommon autosomal dominant condition with a varied clinical spectrum which includes  premature cranial and facial suture fusion and complex upper and lower limb syndactilies.
Cassio Raposo-Amaral, Cesar Augusto Raposo-Amaral, Enrico Ghizoni   +2 more
doaj   +1 more source

Ruptured Sinus of Valsalva Aneurysm in Apert Syndrome: Case report. [PDF]

J Community Hosp Intern Med Perspect, 2022
BACKGROUND: Sinus of Valsalva aneurysm (SOVA) is a rare anomaly of the aorta that can be congenital or acquired. It can be associated with syndromes such as Marfan syndrome and Ehlers-Danlos syndrome.
Aldabain L, Haddaden M, Bandaru S, Camire L, Weisman DS.   +4 more
europepmc   +2 more sources

Apert's Syndrome

International Journal of Clinical Pediatric Dentistry, 2014
Apert's syndrome (acrocephalosyndactyly) is a rare congenital disorder characterized by craniosynostosis, midfacial malforma-tion and symmetrical syndactyly of hands and feet. Craniofacial deformities include cone-shaped calvarium, fat forehead, prop-tosis, hypertelorism and short nose with a bulbous tip.
Kumar, Gudipaneni Ravi, Jyothsna, Mandapati, Ahmed, Syed Basheer, Sree Lakshmi, Ketham Reddy   +3 more
openaire   +2 more sources

Molecular analysis of exon 7 of the fibroblast growth factor receptor 2 (FGFR2) gene in an Indonesian patient with Apert syndrome: a case report

Journal of Medical Case Reports, 2019
Background Apert syndrome, Online Mendelian Inheritance in Man number 101200, is a rare genetic condition, with autosomal dominant inheritance, characterized by craniosynostosis, midfacial malformation, and severe symmetrical syndactyly.
Gara Samara Brajadenta, Ariestya Indah Permata Sari, Donny Nauphar, Tiar Masykuroh Pratamawati, Vincent Thoreau   +4 more
doaj   +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

Dermal fibroblast transcriptome indicates contribution of WNT signaling pathways in the pathogenesis of Apert syndrome

The Turkish Journal of Pediatrics, 2017
Cranial sutures are unossified connective tissue structures between the cranial bones, which allow expansion of these bones during development. Premature ossification of these structures is called craniosynostosis.
Arda Çetinkaya, Ekim Taşkıran, Tutku Soyer, Pelin Özlem Şimşek-Kiper, Gülen Eda Utine, Gökhan Tunçbilek, Koray Boduroğlu, Mehmet Alikaşifoğlu   +7 more
doaj   +1 more source

Apert Syndrome: A Case Report

, 2023
Background: Apert syndrome is a type 1 acrocephalosyndactyly, a rare syndrome characterized by the presence of multiple craniosynostoses, dysmorphic facial manifestations, and syndactyly of hand and feet.
Renardy Reza Razali, Munawar Adhar Lubis*   +1 more
core   +1 more source