Results 31 to 40 of about 2,017 (144)

Awake Bronchoscopy-Guided Nasotracheal Intubation in a Child with Treacher Collins Syndrome and Obstructive Sleep Apnoea

open access: yesAirway, 2022
Flexible videobronchoscopy-guided awake intubation is the standard of care in adult patients with negligible mouth opening presenting for corrective surgeries.
Anirudh Elayat   +4 more
doaj   +1 more source

Treacher Collins syndrome – a case report

open access: yesCase Reports in Perinatal Medicine, 2022
Treacher Collins syndrome (TCS), also known as mandibulofacial dysostosis and Franceschetti-Zwahlen- Klein syndrome, is an autosomal dominant disorder of soft tissue and the craniofacial bones.
Fraszczyk-Tousty Magda   +4 more
doaj   +1 more source

Phenotypic and molecular heterogeneity in mandibulofacial dysostoses : a case series from India

open access: yes, 2022
Objective Facial dysostosis is a group of rare craniofacial congenital disabilities requiring multidisciplinary long-term care. This report presents the phenotypic and genotypic information from South India. Design The study is a case series.
Shenoy, Rathika D.   +9 more
core   +2 more sources

Awareness about Patterson syndrome among dental students

open access: yesJournal of Advanced Pharmaceutical Technology & Research, 2022
The aim is to create awareness about Patterson syndrome among dental students. Patterson-Stevenson-Fontaine syndrome is a very rare condition marked by irregular facial bone and tissue growth (mandibulofacial dysostosis) as well as limb abnormalities.
M Dhakshinya   +3 more
doaj   +1 more source

First and second branchial arch involvement in mandibulofacial dysostosis Guion-Almeida type

open access: yes, 2023
Mandibulofacial dysostosis Guion-Almeida Type (MFDGA; OMIM#610536) is a rare autosomal dominant genetic disorder caused by heterozygous pathogenic variants in the EFTUD2 gene.
Quinzi, V   +7 more
core   +1 more source

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. [PDF]

open access: yesAm J Hum Genet, 2012
Mandibulofacial dysostosis with microcephaly (MFDM) is a rare sporadic syndrome comprising craniofacial malformations, microcephaly, developmental delay, and a recognizable dysmorphic appearance.
Lines MA   +27 more
europepmc   +2 more sources

Anesthetic Management of Patient for Case with Apert Syndrome

open access: yesHaseki Tıp Bülteni, 2018
Apert syndrome is an autosomal dominant inherited mandibulofacial dysostosis characterized by craniosynostosis, syndactyly, high forehead, broad nose, maxillary hypoplasia, synostosis of cervical vertebrae, organ malformations, and mental retardation. It
Gamze Küçükosman   +3 more
doaj   +1 more source

Propranolol-induced gingival hyperplasia with Nager syndrome: A rare adverse drug reaction

open access: yesJournal of Advanced Pharmaceutical Technology & Research, 2016
Drug reactions are a group of reactionary lesions generally show their manifestations in the oral cavity. The drug reactions may vary from local rashes to well-developed swellings in the oral cavity especially involving the gingiva.
Syed Ahamed Raheel   +4 more
doaj   +1 more source

Treacher Collins Syndrome (mandibulofacial dysostosis) – A case report [PDF]

open access: yesRomanian Journal of Neurology
Background. Treacher-Collins Syndrome (TCS) (or mandibulofacial dysostosis) is a rare autosomal dominant genetic disorder involving 1st and 2nd branchial arches present with craniofacial deformities with variable expressivity.
Praveen Sharma   +3 more
doaj   +1 more source

sj-xlsx-1-cpc-10.1177_10556656221136177 - Supplemental material for A Brief Analysis on Clinical Severity of Mandibulofacial Dysostosis Guion-Almeida Type

open access: yes, 2022
Supplemental material, sj-xlsx-1-cpc-10.1177_10556656221136177 for A Brief Analysis on Clinical Severity of Mandibulofacial Dysostosis Guion-Almeida Type by Zulvikar Syambani Ulhaq, Gita Vita Soraya, Lola Ayu Istifiani, Syafrizal Aji Pamungkas, Ditya ...
Lina Fitria Astari (14042497)   +14 more
core   +1 more source

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