Results 71 to 80 of about 5,149 (199)

Crouzon Syndrome

open access: yes
Citation: 'Crouzon syndrome' in the IUPAC Compendium of Chemical Terminology, 5th ed.; International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.10575 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual terms.
Zeppieri M, Karsonovich T, Patel BC.
europepmc   +2 more sources

Pterygoid bone malformation and its limitations on the effectiveness of brachycephalic airway corrective surgery in brachycephalic dogs

open access: yesJournal of Small Animal Practice, Volume 67, Issue 2, Page 105-111, February 2026.
Objectives This study aimed to examine the association between pterygoid bone medialisation and treatment outcomes after upper airway surgery in three brachycephalic breeds. Materials and Methods Dogs that underwent CT of the head followed by routine surgery for brachycephalic obstructive airway syndrome were recruited in this study.
S. L. Yuen   +3 more
wiley   +1 more source

Electrocardiographic variables in children with syndromic craniosynostosis and primary snoring to mild obstructive sleep apnea [PDF]

open access: yes, 2018
Background: In the spectrum of children with symptomatic sleep disordered breathing (SDB), some individuals – such as those with upper airway resistance syndrome (UARS) – do not have abnormalities on polysomnography (PSG).
Corel, L.J.A. (Linda)   +6 more
core   +3 more sources

Health‐Related Quality of Life and Social Reintegration Indicators Following Reconstructive Surgery: A Prospective Observational Study

open access: yesWorld Journal of Surgery, Volume 49, Issue 10, Page 2794-2800, October 2025.
Studies focusing on disease severity and reconstructive surgical treatment's impact on health‐related quality of life (HRQOL) are lacking, particularly in low‐ and middle‐income countries (LMICs). This study aims to assess the impact of reconstructive surgery‐related conditions on basic indicators of quality of life and social integration within the ...
Shireen Dumont   +6 more
wiley   +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

Parental knowledge and attitudes toward genetic counseling and childhood genetic testing for congenital anomalies in Qatar

open access: yesJournal of Genetic Counseling, Volume 34, Issue 4, August 2025.
Abstract This study aims to evaluate parental knowledge and attitudes toward genetic counseling and testing in the context of pediatric plastic surgery in Qatar. It assesses baseline knowledge to identify educational gaps and factors that may contribute to fear or reluctance in managing children with congenital anomalies.
Houda M. Alkilani   +6 more
wiley   +1 more source

Cranial neural crest cell contribution to craniofacial formation, pathology, and future directions in tissue engineering [PDF]

open access: yes, 2014
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/108634/1/bdrc21075 ...
Achilleos   +51 more
core   +1 more source

Is It Feasible to Screen for Fetal De Novo or Paternally Inherited Pathogenic Single Nucleotide Variants in Maternal Plasma Cell‐Free DNA? A Systematic Literature Review

open access: yesPrenatal Diagnosis, Volume 45, Issue 9, Page 1139-1150, August 2025.
ABSTRACT Objective Monogenic disorders (MDs), often associated with developmental delay, intellectual disability, hypotonia, or dysmorphic facial features, typically go undetected during pregnancy. These disorders are frequently caused by de novo single nucleotide variants (SNVs), which are not currently covered by routine non‐invasive prenatal testing
Kristína Valovičová   +4 more
wiley   +1 more source

Identification of the molecular basis of the lacrimo-auriculo-dento-digital (LADD) syndrome [PDF]

open access: yes, 2008
Lacrimo-auriculo-dento-digital (LADD) syndrome, also known as Levy-Hollister syndrome, is a rare autosomal dominant developmental disorder, mainly characterized by abnormalities of the lacrimal system and salivary glands, ears and hearing, teeth and ...
Rohmann, Edyta
core  

Métodos de avaliação cognitiva de pacientes com Síndrome de Apert e de Crouzon

open access: yesMedicina, 2023
Introdução: A Craniossinostose Coronal bilateral implica em diminuição do Perímetro Craniano (PC) no eixo ântero-posterior (Braquicefalia) e frequentemente se associa ao aumento do eixo céfalo-caudal (vertical-altura) do crânio (Turricefalia), sendo um ...
Adriana Lovalho   +4 more
doaj  

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