Results 11 to 20 of about 376 (181)
Dental approach for Apert syndrome in children: a systematic review. [PDF]
Med Oral Patol Oral Cir Bucal, 2017 Apert Syndrome (AS), or type I acrocephalosyndactyly, is a rare, congenital craniosynostosis condition resulting from missense mutations in the gene encoding fibroblast growth factor receptor 2.
López-Estudillo AS +5 more
europepmc +3 more sources
Métodos de avaliação cognitiva de pacientes com Síndrome de Apert e de Crouzon [PDF]
, 2023 Introduction: Bilateral Coronal Craniosynostosis implies a decrease in the Cranial Perimeter (CP) in the anteroposterior axis (Brachycephaly) and is frequently associated with an increase in the cephalocaudal (vertical height) axis of the skull ...
Astolfi, Gustavo Henrique Blumer +4 more
core +4 more sources
A Case Report of Apert Syndrome in a Fifty-Eight Year Old Female [PDF]
, 2020 Defined as a rare type I acrocephalosyndactyly syndrome which is clinically characterized by dysmorphic facial features, craniosynostosis, and severe syndactyly of the hands and feet, Apert Syndrome represents an autosomal dominant inheritance which ...
Pooja Gaur
core +3 more sources
Comparative analysis of semantic similarity and gene orthology tools for identification of gene candidates for human diseases [PDF]
, 2023 In the study of rare and undiagnosed diseases it is of critical importance to identify potential gene candidates for those disease in order to establish an appropriate treatment protocol.
Laraway, Bryan
core +1 more source
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
core +1 more source
Pfeiffer Type I Syndrome: A Genetically Proven Case Report [PDF]
, 2008 ObjectivePfeiffer Syndrome is as rare as Apert syndrome in the Western population. This condition is very rare in the Asian population. At the best of our knowledge this is the first genetically proven case report from Iran.
Houshmand, M., Saket, S., Salehpour, Sh.
core +2 more sources
A Case of Pfeiffer Syndrome [PDF]
, 2006 Pfeiffer Syndrome is as rare as Apert syndrome in the Western population. This condition is very rare in the Asian population and has not been previously reported in Korea.
Bae +28 more
core +3 more sources
, 2006 Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet.
A Nazzaro +11 more
core +3 more sources
Síndrome de Apert: características clínicas e radiográficas e relato de caso [PDF]
PURPOSE: Apert syndrome is a rare type I acrocephalosyndactyly syndrome characterized by craniosynostosis, severe syndactyly of the hands and feet, and dysmorphic facial features.
COSTA, Claudio +3 more
core +1 more source
Síndrome de Apert de Novo. Reporte de un caso. [PDF]
, 2018 El síndrome de Apert es una enfermedad genética de herencia autosómica dominante o por mutaciones esporádicas en el gen FGFR2. Se presenta el caso de una paciente de sexo femenino de 27 años de edad, con las características fenotípicas clásicas del ...
Bohórquez Aguirre, Natasha +3 more
core +1 more source