Results 31 to 40 of about 665 (159)

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   +1 more source

Long-term, complex orthodontic treatment of patient with Apert syndrome – from severe malocclusion to functional and aesthetic result

open access: yesAnnales Academiae Medicae Silesiensis
This case report describes the orthodontic treatment of a 2-year-old female with Apert syndrome, initially admitted to the Clinic of Congenital Abnormalities in the University Dental Centre of Medical University of Silesia in Katowice in 2004.
Anna Ledwoń   +3 more
doaj   +1 more source

MODERN VIEWS REGARDING THE ETIOPATHOGENESIS, DIAGNOSTIC, TREATMENT AND PREVENTION OF APERT SYNDROME

open access: yesМедична 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

Anesthetic management of craniosynostosis repair in patient with Apert syndrome

open access: yesSaudi Journal of Anaesthesia, 2014
Apert syndrome is an autosomal dominant disease characterized by craniosynostosis, midface hypoplasia and syndactyly. In general, patients present in early childhood for craniofacial reconstruction surgery.
Niraj Kumar   +3 more
doaj   +1 more source

Apert's syndrome [PDF]

open access: yes, 2004
Apert's syndrome (acrocephalosyndactyly) is a rare congenital disorder characterized by craniosynostosis, mid-facial malformations and symmetrical syndactyly.
Debjani Mukherjee   +1 more
core   +2 more sources

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

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

Apert Syndrome Presenting with Omphalocele [PDF]

open access: yesJournal of Krishna Institute of Medical Sciences University, 2019
Apert syndrome is a congenital acrocephalosyndactyly syndrome. It is mainly presented by craniosynostosis, syndactyly of the hands and feet and dysmorphic facial features.
Keerti Swarnkar   +4 more
doaj  

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

Dr. Haakon Sæthre: A Norwegian Neuroscientist and his Resistance against Nazi Germany [PDF]

open access: yes, 2013
Dr. Haakon Sæthre was a leader of Norwegian neurology and psychiatry. He was resourceful, compassionate, and had immense pride in his independent homeland. He described Sæthre-Chotzen syndrome (acrocephalosyndactyly type III).
Lawrence A. Zeidman (7928924)
core   +2 more sources

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