Results 11 to 20 of about 5,209 (186)

Apert syndrome: Diagnostic and management problems in a resource-limited country [PDF]

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, Yahaya S. Ouedraogo, Fatimata S. Nacro, Bintou Sanogo, Solange O. Kombasséré, Alain S. Ouermi, Hassane Tamboura, Raymond K. Cessouma, Boubacar Nacro   +8 more
doaj   +2 more sources

Delayed Postnatal Synostosis without Spheno-occipital Synchondrosis Fusion: A Curious Case of Apert Syndrome [PDF]

Plastic and Reconstructive Surgery, Global Open
Summary:. Apert syndrome classically presents with craniosynostosis at birth, most commonly of the bilateral coronal sutures, which may lead to cephalocranial disproportion and elevated intracranial pressure, the latter of which is associated with optic ...
Jinggang J. Ng, MA, Benjamin B. Massenburg, MD, Meagan Wu, MA, Dominic J. Romeo, MA, Jordan W. Swanson, MD, Jesse A. Taylor, MD, Scott P. Bartlett, MD   +6 more
doaj   +2 more sources

Hand Function in Apert Syndrome [PDF]

Plastic and Reconstructive Surgery, Global Open, 2019
Background:. The Michigan Hand Questionnaire is widely used to assess hand outcomes in congenital hand deformities. The purpose of the present study is to compare Apert syndrome hand outcomes according to Upton hand type and age stratification with age ...
Cassio Eduardo Raposo-Amaral, MD, PhD, Rafael Denadai, MD, Thais Miguel do Monte Lameiro, MD, Yuri Moresco de Oliveira, MD, Cesar Augusto Raposo-Amaral, MD   +4 more
doaj   +2 more sources

Apert syndrome

Revista de Ciencias Médicas de Pinar del Río, 2017
Introduction: Apert Syndrome is an autosomal dominant disorder, this defect is caused by a spontaneous mutation, which affects receptor 2 of the fibroblast growth factor.
Elsa Camargo Luaces, Zulema Serrano Figueroa   +1 more
doaj   +1 more source

Prevalence and Patterns of Permanent Tooth Agenesis in Patients With Crouzon or Apert Syndrome: A Systematic Review and Meta-Analysis. [PDF]

Orthod Craniofac Res
ABSTRACT Crouzon and Apert syndromes are rare syndromic craniosynostoses frequently associated with craniofacial and dental anomalies, including tooth agenesis. Although individual studies have reported tooth agenesis prevalence data in specific populations, no attempts have been made to systematically synthesise these data.
Becerril Santos MC, Ongkosuwito EM, Papadopoulou AK, Antonarakis GS.   +3 more
europepmc   +2 more sources

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

Apert Syndrome

Paediatrica Indonesiana, 1993
A case of Apert syndrome in a male child of 5 months old has been reported. The diagnosis was based on the clinical appearance (phenotype) showing acrocephaly and syndactyly of both hands and feet, supported by skull roentgenography and ultrasonography. The patient was the third child from normal parents, and the two other children were normal.
Wenger TL, Hing AV, Evans KN.
europepmc   +2 more sources

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

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