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Treatment timing and multidisciplinary approach in Apert syndrome [PDF]
, 2015 Apert syndrome is a rare congenital disorder characterized by craniosynostosis, midface hypoplasia and symmetric syndactyly of hands and feet. Abnormalities associated with Apert syndrome include premature fusion of coronal sutures system (coronal ...
CAPORLINGUA, ALESSANDRO +6 more
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An exploration of the cognitive, physical and psychosocial development of children with Apert syndrome [PDF]
, 2016 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
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Identification and characterization of an inhibitory fibroblast growth factor receptor 2 (FGFR2) molecule, up-regulated in an Apert Syndrome mouse model [PDF]
, 2011 AS (Apert syndrome) is a congenital disease composed of skeletal, visceral and neural abnormalities, caused by dominant-acting mutations in FGFR2 [FGF (fibroblast growth factor) receptor 2].
Anderson +57 more
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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
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Apert syndrome: the Paris and Rotterdam philosophy [PDF]
, 2017 Introduction: Apert syndrome is a rare type of syndromic craniosynostosis. Patients have an explicit phenotype with craniofacial dysmorphologies and severe symmetrical syndactyly of the hands and feet.
Arnaud, E. (Eric) +8 more
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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
Bangladesh Medical Journal Khulna, 2012 Apert syndrome is a rare autosomal dominant malformation. In the recent past we encountered a boy of 16 months with fusion of both fingers and toes, dysmorphic facial features presenting with cough and respiratory distress in Khulna Medical College hospital. Considering the general paucity of cases of acrocephalosyndactyly in the Bangladeshi literature,
SM Rahman +3 more
openaire +3 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
MODERN VIEWS REGARDING THE ETIOPATHOGENESIS, DIAGNOSTIC, TREATMENT AND PREVENTION OF APERT SYNDROME
Медична наука України, 2020 Relevance. Acrocephalosyndactyly – a group of syndromes of multiple congenital malformations (MCM), the main components of which are acrocephaly and syndactyly. The most common nosological form of this group is Apert syndrome.
V.V. Antsupva +4 more
doaj +1 more source
Fibroblast growth factor receptor signaling in hereditary and neoplastic disease: biologic and clinical implications. [PDF]
, 2015 Fibroblast growth factors (FGFs) and their receptors (FGFRs) are transmembrane growth factor receptors with wide tissue distribution. FGF/FGFR signaling is involved in neoplastic behavior and also development, differentiation, growth, and survival.
Helsten, Teresa +2 more
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