Results 11 to 20 of about 5,244 (207)
Delayed Postnatal Synostosis without Spheno-occipital Synchondrosis Fusion: A Curious Case of Apert Syndrome [PDF]
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 +6 more
doaj +2 more sources
Hand Function in Apert Syndrome [PDF]
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 +4 more
doaj +2 more sources
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 +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]
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 +3 more
europepmc +2 more sources
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
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]
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
APERT SYNDROME (ACROCEPHALOSYNDACTYLY) [PDF]
<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
Posterior vault distraction osteogenesis in Apert syndrome
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
An exploration of the cognitive, physical and psychosocial development of children with Apert syndrome [PDF]
Apert syndrome is a rare condition, with a birth prevalence of approximately 1 in 65 000. This article provides an up to date review of the literature on Apert syndrome from a variety of perspectives, ranging from surgical management to personal accounts.
Hilton, C
core +1 more source

