Results 11 to 20 of about 2,291 (161)
Clinical Features of Apert Syndrome in Infancy: A rare case in Indonesia
Scripta Score Scientific Medical Journal, 2021 Background: Apert syndrome is characterized by several malformations of cranial-facial and syndactyly. The incidence of Apert syndrome was reported at approximately 1 per 65,000 live births, globally.
Muhammad Pradhika Mapindra +1 more
doaj +4 more sources
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 +8 more
doaj +2 more sources
Prevalence and Patterns of Permanent Tooth Agenesis in Patients With Crouzon or Apert Syndrome: A Systematic Review and Meta-Analysis. [PDF]
Orthod Craniofac ResABSTRACT 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 +3 more
europepmc +2 more sources
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 +4 more
doaj +1 more source
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 +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 +2 more
doaj +1 more source
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
openaire +2 more sources
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 +4 more
doaj +1 more source
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 +7 more
doaj +1 more source