Results 51 to 60 of about 961 (204)

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

Dental approach for Apert syndrome in children : a systematic review [PDF]

open access: yes, 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.
Garrocho Rangel, Arturo   +5 more
core   +1 more source

Is the Apert foot an overlooked aspect of this rare genetic disease? Clinical findings and treatment options for foot deformities in Apert syndrome

open access: yesBMC Musculoskeletal Disorders, 2020
Background Apert syndrome is characterised by the presence of craniosynostosis, midface retrusion and syndactyly of hands and feet, thus, synonymously referred to as acrocephalosyndactyly type I.
Alexandra Stauffer, Sebastian Farr
doaj   +1 more source

A case report describing insights into the imaging of Apert syndrome

open access: yesRare
Apert syndrome is a rare congenital autosomal dominant acrocephalosyndactyly type I syndrome which manifests in the form of various craniofacial, skeletal, and visceral anomalies.
Diksha Goyal, Poonam Sherwani
doaj   +1 more source

Baja talla por déficit selectivo e idiopático de hormona de crecimiento asociado al Síndrome de Crouzon

open access: yesCiencia y Salud, 2017
El Síndrome de Crouzon constituye la craneosinostosis compleja más frecuente y conocida. Se transmite de forma autosómica dominante, con expresión variable, no tiene predilección racial ni de sexo y es infrecuente su asociación con el déficit selectivo ...
Francisco Carvajal Martínez   +3 more
doaj   +1 more source

A Case of Saethre-Chotzen Syndrome [PDF]

open access: yes, 1977
Saethre-Chotzen syndrome was described independently by the Norwegian psychiatrist, Saethre, and the German psychiatrist, Chotzen, in the 1930s; since that time many cases have been reported, some using the terms acrocephalosyndactyly, type III, and ...
Mamunes, Peter, McKeon-Kern, Catherine
core   +1 more source

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