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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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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Orthodontic and surgical rehabilitation children with Treacher Collins syndrome [PDF]
, 2022 Rezumat. Sindromul Treacher Collins (TCS) este o tulburare autozomal dominantă rară a dezvoltării cranio-faciale. Este o malformaţie congenitală a primului şi celui de-al doilea arc branial care poate afecta dimensiunea şi forma urechilor ...
Ciobanu, Galina, Railean, Silvia
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High-sensitivity C-reactive protein is a predictive factor of adiposity in children : results of the Identification and prevention of Dietary- and lifestyle-induced health Effects in Children and InfantS (IDEFICS) study [PDF]
, 2013 Background-Whereas cross-sectional studies have shown that obesity is associated with increased C-reactive protein (CRP) levels in children, little is known about the impact of low-grade inflammation on body mass changes during growth.
Fraterman, Arno +12 more
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Familial treacher collins syndrome- from an obstetrician’s view [PDF]
, 2021 A number of genetic syndromes have been identified and can be diagnosed antenatally using ultrasonography signifying the importance of antenatal care.
Rajurkar, Kishore +2 more
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Indian Journal of Plastic Surgery, 1984 SummaryA case of treacher-collin syndrome (Mandibulo facial dysostosis) is reported.
Rajendra N. Sharma, Tara Chandra
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A Case Report of a Child with Treacher Collins Syndrome Posted for Craniofacial Reconstruction [PDF]
The Indian Anaesthetists' Forum, 2010 We describe anaesthesia in a child suffering from Treacher Collins Syndrome (TCS) posted for craniofacial reconstruction by mandibular distraction with external ...
Snehalata Dhayagude +2 more
doaj
Clinical spectrum of Treacher Collins syndrome
Journal of Oral Biology and Craniofacial Research, 2011 : Treacher Collins syndrome (TCS) is the most common of the human mandibulofacial dysostosis disorders. It is an autosomal-dominant disorder of the craniofacial development occurring between the fifth and the eighth weeks of embryonic development with an
Divya Mehrotra +3 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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