Results 51 to 60 of about 1,422,626 (192)

Cervical spine in Treacher Collins Syndrome

open access: yes, 2012
Treacher Collins syndrome is a congenital syndrome with characteristic craniofacial malformations, which are well described in the literature. However, the presence of cervical spine dysmorphology in this syndrome has been minimally described. This study
David, D.   +3 more
core   +1 more source

Clinical spectrum of Treacher Collins syndrome

open access: yesJournal 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
doaj   +1 more source

Orthodontic and surgical rehabilitation children with Treacher Collins syndrome [PDF]

open access: yes, 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 ...
Railean, Silvia, Ciobanu, Galina
core   +1 more source

First Case Report of Agnathia–Otocephaly Complex Reported in Niger

open access: yesClinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Agnathia–otocephaly complex (AOC) is an extremely rare congenital malformation resulting from a disorder of the first branchial arch. In the past, this condition was considered lethal. However, milder variants of the isolated type of AOC have been reported as non‐lethal.
Hamidou Soumana Diaouga   +3 more
wiley   +1 more source

Prenatal Tympanic Ring Anomaly Without Microtia: A Subtle Clue Toward Severe Early‐Onset Monogenic Disorders

open access: yesPrenatal Diagnosis, Volume 46, Issue 7, Page 1096-1103, June 2026.
ABSTRACT Objective To investigate the genetic etiologies and clinical significance of fetal tympanic ring abnormalities detected during second‐trimester ultrasound in the absence of microtia. Method Between November 2019 and June 2024, we examined the fetal tympanic rings of 10,277 unselected pregnant women during the 20–22 weeks of morphology ...
Yung Hang Lam   +5 more
wiley   +1 more source

Inherited Treacher-Collins syndrome in twins after artificial insemination.

open access: yes, 1994
We present two cases of the Treacher-Collins syndrome and one case of plagiocephalus in a trigeminus childbirth resulting from artificial insemination. The mother, although affected with the Treacher-Collins syndrome, was not diagnosed before the birth ...
Josca R, Sailer HF
core   +1 more source

Mandibulofacial dysostosis (Treacher Collins syndrome): A case report and review of literature

open access: yesContemporary 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
doaj   +1 more source

Generation of a human induced pluripotent stem cell line (PSHi002-A) from a Treacher-Collins syndrome patient carrying a TCOF1 gene mutation (c.1966_1969dup)

open access: yesStem 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
doaj   +1 more source

Treacher Collin Syndrome

open access: yesIndian Journal of Plastic Surgery, 1984
SummaryA case of treacher-collin syndrome (Mandibulo facial dysostosis) is reported.
Rajendra N. Sharma, Tara Chandra
openaire   +2 more sources

Tissue Engineered Human Elastic Cartilage From Primary Auricular Chondrocytes for Ear Reconstruction

open access: yesAdvanced Functional Materials, Volume 36, Issue 36, 4 May 2026.
Despite over three decades of research, no tissue‐engineered solution for auricular reconstruction in microtia patients has reached clinical translation. The key challenge lies in generating functional elastic cartilage ex vivo. Here, we integrate synergistic cell‐biomaterial strategies to engineer auricular grafts with mechanical and histological ...
Philipp Fisch   +13 more
wiley   +1 more source

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