Results 31 to 40 of about 1,223,696 (186)

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

Three-Dimensional Evaluation of Dental Arches in Individuals with Syndromic Craniosynostosis

open access: yesInternational Journal of Dentistry, 2023
Objective. Individuals with syndromic craniosynostosis present alterations in the dental arches due to anomalies caused by the early fusion of the craniomaxillary sutures.
Rayane de Oliveira Pinto   +5 more
doaj   +1 more source

Apert Syndrome: A Case Report [PDF]

open access: yesIranian Journal of Neonatology, 2022
Background: Primary craniosynostosis is a form of premature fusion of the cranial sutures, which commonly occurs prenatally. The condition appears in both syndromic and nonsyndromic forms.Case report: The cause of most cases of primary craniosynostosis ...
Shahin Mafinejad   +3 more
doaj   +1 more source

Apert Syndrome

open access: yesBangladesh Medical Journal Khulna, 2012
Apert syndrome is a rare autosomal dominant malformation. In the recent past we encountered a boy of 16 months with fusion of both fingers and toes, dysmorphic facial features presenting with cough and respiratory distress in Khulna Medical College hospital. Considering the general paucity of cases of acrocephalosyndactyly in the Bangladeshi literature,
SM Rahman   +3 more
openaire   +3 more sources

maxillofacial features of Apert syndrome [PDF]

open access: yes, 2017
Apert syndrome is a rare craniosynostosis syndrome characterized by irregular craniosynostosis, midface hypoplasia, and syndactyly of the hands and feet.
Kakutani, Hitomi   +5 more
core   +1 more source

Apert syndrome: A rare case requiring multidisciplinary approach for a better living

open access: yesTNOA Journal of Ophthalmic Science and Research, 2021
A 7-year-old boy presented with watering, prominent eyes and defective vision. He had brachycephaly, hypertelorism, shallow proptotic orbits, large exotropia, and syndactyly of the hands and feet.
Sasikala A Elizabeth   +1 more
doaj   +1 more source

Developmental Morphometry of the Paranasal Sinuses in Subjects Aged 1–25 Years: A Computed Tomography Study

open access: yesClinical Anatomy, EarlyView.
ABSTRACT The present study aimed to evaluate the developmental morphometry of the paranasal sinuses using computed tomography (CT) in subjects aged 1–25 years and to characterize age‐related changes in sinus dimensions, volume, and surface area throughout childhood, adolescence, and young adulthood.
Ceyda Şevval Çetin   +4 more
wiley   +1 more source

Germline Cancer Predisposition and De Novo Contributions in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group

open access: yesInternational Journal of Cancer, EarlyView.
ABSTRACT Approximately 6%–8% of children and adolescents with rhabdomyosarcoma (RMS) have an underlying cancer predisposition disorder (CPD), which varies between embryonal and alveolar subtypes and other clinical characteristics. Identifying a CPD remains challenging, as traditional approaches rely on clinical features and family history. Additionally,
Taylor M. Luckie   +12 more
wiley   +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

The Audiologic and Otolaryngologic Phenotype in WHIM Syndrome

open access: yesOtolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective WHIM syndrome (warts, hypogammaglobulinemia, infections, and myelokathexis syndrome) is an ultra‐rare primary immunodeficiency disease caused by autosomal dominant hyperfunctional mutations in the chemokine receptor CXCR4. Otolaryngologists are frequently consulted to evaluate WHIM patients because of recurrent acute ear and sinus ...
Christopher K. Zalewski   +7 more
wiley   +1 more source

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