Results 61 to 70 of about 6,877 (203)
Congenital malformations [PDF]
, 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
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Clinical Case Reports, Volume 13, Issue 12, December 2025.ABSTRACT Congenital syngnathia, the rare fusion of the maxilla and mandible, poses significant feeding and respiratory challenges. Its management is complicated by rarity and potential syndromic associations. We present a 1‐week‐old female neonate who presented with left jaw deviation, respiratory distress (SpO2 69%, tachypnea), and fever.
Asteway M. Haile +5 more
wiley +1 more source
Treacher-Collins Syndrome-A Challenge For Aaesthesiologists
Indian Journal of Anaesthesia, 2009 Treacher-Collins syndrome is a rare congenital disease known to be associated with a difficult airway and presents some of the most hazardous and difficult challenges that anaesthetists may encounter within the entire practice of paediatric anesthesia ...
Leena Goel +2 more
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Mandibulofacial dysostosis (Treacher Collins syndrome): A case report and review of literature
Contemporary Clinical Dentistry, 2014 Treacher Collins syndrome (TCS) or Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable phenotypic expression. It presents with characteristic facial appearance enabling it to be easily recognizable.
Raj Renju +3 more
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Stem Cell Research, 2021 Mutations of the Treacle Ribosome Biogenesis Factor 1 (TCOF1) gene can lead to Treacher Collins syndrome (TCS). In present study, the peripheral blood mononuclear cells (PBMCs) of a 33-year-old male TCS patient with the heterozygous TCOF1 mutation c ...
Zeya Zhang, Nuo Si, Bo Pan, Haiyue Jiang
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Functional analyses of a novel splice variant in the CHD7 gene, found by next generation sequencing, Confirm Its pathogenicity in a Spanish patient and diagnose him with CHARGE syndrome [PDF]
, 2018 Mutations in CHD7 have been shown to be a major cause of CHARGE syndrome, which presents many symptoms and features common to other syndromes making its diagnosis difficult.
Botella, Maria P. +8 more
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A CASE OF TREACHER COLLINS SYNDROME
Balkan Journal of Medical Genetics, 2013 Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with an incidence of 1/50,000 live births. Mutations of the TCOF1 gene have been found to be responsible for most cases of this mandibulofacial disorder.
Ulusal S. +5 more
doaj +1 more source
Multisite dependency of an E3 ligase controls monoubiquitylation-dependent cell fate decisions. [PDF]
, 2018 Metazoan development depends on tightly regulated gene expression programs that instruct progenitor cells to adopt specialized fates. Recent work found that posttranslational modifications, such as monoubiquitylation, can determine cell fate also ...
Baur, Regina +4 more
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International Journal of Osteoarchaeology, Volume 35, Issue 6, Page 490-501, November/December 2025.ABSTRACT This study aims to compare diet and skeletal health indicators between individuals with varying degrees of physical impairment and the general adult population from medieval Estremoz, Portugal, to assess their health status and their survival outcomes.
Ana Curto +3 more
wiley +1 more source
Rwanda Medical Journal, 2022 INTRODUCTION: Although Treacher-Collins syndrome has to be considered a differential diagnosis in congenital craniofacial abnormalities, the clinical diagnosis and research related to it still present a gap, especially in African regions.
B. Tuyishimire +7 more
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