Results 21 to 30 of about 790 (167)

General and oral aspects in Apert syndrome: report of a case [PDF]

open access: yes, 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

Apert syndrome: a case report

open access: yesNational Journal of Clinical Anatomy, 2015
Apert syndrome was described as a triad of craniosynostosis, syndactyly and maxillary hypoplasia. The incidence of Apert syndrome is approximately one in 50,000 births.
A Barman, B C Dutta, J K Sarkar
doaj   +1 more source

Kleeblattschädel in Pfeiffer syndrome type II

open access: yesRadiology Case Reports, 2020
Pfeiffer syndrome is an uncommon autosomal dominant disorder that results in craniosynostosis of multiple calvarial sutures with resulting abnormal facies and turribrachycephaly.
Cory M. Pfeifer, MD, MPH, MS
doaj   +1 more source

Apert's syndrome: A rare case

open access: yesJournal of Indian Academy of Oral Medicine and Radiology, 2016
Apert's syndrome is a rare type I acrocephalosyndactyly syndrome characterized by craniosynostosis, severe syndactyly of the hands and feet, and dysmorphic facial features.
Tarun Kumar   +3 more
doaj   +1 more source

Congenital malformations [PDF]

open access: yes, 2012
Congenital malformations are single or multiple defects of the morphogenesis of organs or body districts identifiable at birth or during the intrauterine life. Their global birth prevalence is about 2–3%.
CORSELLO, Giovanni, GIUFFRE, Mario
core   +1 more source

A Case Report of Apert Syndrome in a Fifty-Eight Year Old Female [PDF]

open access: yes, 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

Apert Syndrome: orthopedic treatment [PDF]

open access: yes, 2011
El Síndrome de Apert es un trastorno autosómico dominante, caracterizado por craneosinostosis, hipoplasia del tercio medio de la cara y sindactilia de manos y pies.
Alonso Tajes, Francisco   +3 more
core   +2 more sources

Apert syndrome: the Paris and Rotterdam philosophy [PDF]

open access: yes, 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
core   +2 more sources

Histone-Binding of DPF2 Mediates Its Repressive Role in Myeloid Differentiation [PDF]

open access: yes, 2017
Double plant homeodomain finger 2 (DPF2) is a highly evolutionarily conserved member of the d4 protein family that is ubiquitously expressed in human tissues and was recently shown to inhibit the myeloid differentiation of hematopoietic stem/progenitor ...
Davenport, Andrew M.   +7 more
core   +1 more source

Clinical Features of Apert Syndrome in Infancy: A rare case in Indonesia [PDF]

open access: yes, 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.
Mahindra, Muhammad Pradhiki   +1 more
core   +2 more sources

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