Expresividad variable en el síndrome de acrocefalosindactilia tipo I. A propósito de dos pacientes [PDF]
, 2015 Acrocephalosyndactyly type I, also called Apert syndrome is a rare autosomal dominant disorder characterized by craniosynostosis, midface hypoplasia and severe bone skin and symmetrical syndactyly of hands and feet.
González Hernández, Kenia +2 more
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Distracción osteogénica del maxilar y manejo ortodóncico integral en paciente con síndrome de Pfeiffer. Reporte de caso [PDF]
, 2019 Pfeiffer´s syndrome is an autosomal dominantly inherited craniosynostosis, its clinical features are both at craniofacial level and upper and lower limbs.
Ayala, Francisca +4 more
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Síndrome de Apert. Reporte de caso [PDF]
, 2019 Fundamento: El síndrome de Apert consiste en una enfermedad genética con anomalía craneofacial denominada acrocefalosindactilia; produce malformaciones en el cráneo como craneosinostosis, además de alteraciones en cara, manos y pies, puede ser ...
Amary Yumar Díaz +3 more
core
, 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 +1 more
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Apert syndrome (Acrocephalosyndactyly): a case report [PDF]
, 2017 Apert syndrome is named for the French physician. Eugene Apert in 1906 described the syndrome acrocephalosyndactylia. It is a rare autosomal dominant disorder characterized by craniosynostosis, craniofacial anomalies, and severe symmetrical syndactyly of
Kumar, M. Praveen +2 more
core +1 more source
Uncovering Molecular Properties of Neural Crest Cells [PDF]
, 2009 The neural crest is a transient population of cells that arises at the border between the neural and non-neural ectoderm. These cells are induced, undergo an epithelial-to-mesenchymal transition, and then migrate along stereotypical pathways to form a ...
Adams, Meghan Sara
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Is transition from paediatric to adult healthcare with a life-limiting condition associated with more unplanned hospital care? [PDF]
, 2022 Life-limiting conditions, which shorten or threaten to shorten life, are becoming increasingly prevalent among young people in England, attributed partly to longer survival.
Jarvis, Stuart
core
Acrocéfalo-sindactilia tipo i. síndrome de apert presentación de un caso [PDF]
, 2007 Acrocefalosindactilia tipo I o síndrome de Apert es un síndrome que se caracteriza por el cierre prematuro de las suturas craneales, lo que hace que la cabeza tome una forma puntiaguda y que se deforme la apariencia de la cara por anomalía craneofacial ...
Pérez Villalba, Luis Alberto +2 more
core +1 more source
Difficult airway management in Apert syndrome for maxillofacial reconstruction: a case report
, 2022 Apert syndrome (AS) is an autosomal dominant disease associated with several craniofacial and limb deformities. Craniofacial deformities in AS patients requiring surgery are usually associated with difficult airway management.
Andre Azhar +2 more
core +1 more source
Acrocefalosindactilia. Presentación de un caso. 2012 [PDF]
, 2016 Introduction: the acrocephalosyndactilism or Apert syndrome is a genetic defect that is included within a wide group of cranioencephalic anomalies, specifically those that present craniosinostosis.
González Llovet, Niurka +2 more
core +1 more source