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Orthodontics & Craniofacial Research, 2007 Structured AbstractAuthors – Dixon J, Trainor P, Dixon MJTreacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development which results from loss‐of‐function mutations in the gene TCOF1. TCOF1 encodes the nucleolar phosphoprotein, Treacle, which plays a key role in pre‐ribosomal processing and ribosomal biogenesis. In mice,
Dixon, Jill; id_orcid 0000-0001-9774-7095 +2 more
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Archives of Otolaryngology - Head and Neck Surgery, 1964
Although the Treacher-Collins syndrome is not a new entity and cases have been reported sporadically since Berry in 1888 first reported two cases of congenital coloboma of the lower eyelids, it is surprising that little has been written concerning the otologic aspects of this very interesting, if unfortunate, aggregate of congenital malformations.
A O, FERNANDEZ, M L, RONIS
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Although the Treacher-Collins syndrome is not a new entity and cases have been reported sporadically since Berry in 1888 first reported two cases of congenital coloboma of the lower eyelids, it is surprising that little has been written concerning the otologic aspects of this very interesting, if unfortunate, aggregate of congenital malformations.
A O, FERNANDEZ, M L, RONIS
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Nasal sequelae of Treacher Collins syndrome
Journal of Plastic, Reconstructive and Aesthetic Surgery, 2015 Objective: This study aimed to determine external and endonasal deformity, and satisfaction with nasal functioning and appearance, in Treacher Collins syndrome. Study design: A cross-sectional cohort study was conducted.
Raul G. Plomp +1 more
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Clinics in Plastic Surgery, 2019
Treacher Collins syndrome is a rare genetic disorder of craniofacial development with a highly variable phenotype. The disorder displays an intricate underlying dysmorphology. Affected patients may suffer life-threatening airway complications and functional difficulties involving sight, hearing, speech, and feeding.
Albaraa, Aljerian, Mirko S, Gilardino
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Treacher Collins syndrome is a rare genetic disorder of craniofacial development with a highly variable phenotype. The disorder displays an intricate underlying dysmorphology. Affected patients may suffer life-threatening airway complications and functional difficulties involving sight, hearing, speech, and feeding.
Albaraa, Aljerian, Mirko S, Gilardino
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Treacher–Collins Syndrome and Neurofibromatosis
International Journal of Dermatology, 1986Observation chez un adulte jeune de 19 ans qui presente une tumeur au pied gauche, provoquant des difficultes dans la marche. Depuis la naissance il presente les aspects cliniques du syndrome de Treacher Collins. On pratique une exerese de la tumeur et l'etude histologique confirme le diagnostic de neurofibromatose.
M, Kahana +3 more
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Familial Treacher-Collins syndrome
The Journal of Laryngology & Otology, 1988The major congenital malformations of the first and second branchial arch derivatives such as mandibulofacial dysostosis have a genetic basis. Treacher-Collins syndrome is transmitted as an autosomal dominant trait, although many cases occur as spontaneous mutations.
P S, Murty +3 more
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The British Journal of Radiology, 1954
The main clinical and radiological features of two cases of Treacher Collins syndrome have been described. Radiologically, the outstanding features are: (1) Agenesis of the malar bones. (a) Non-fusion of the zygomatic arches. (b) Absence of the bodies of the malar bones.
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The main clinical and radiological features of two cases of Treacher Collins syndrome have been described. Radiologically, the outstanding features are: (1) Agenesis of the malar bones. (a) Non-fusion of the zygomatic arches. (b) Absence of the bodies of the malar bones.
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Treacher Collins Syndrome and Achalasia
Journal of Clinical Gastroenterology, 1987Achalasia is often a familial disease and may be inherited in association with other familial defects. I report a patient born with a familial facial dysostosis, Treacher Collins syndrome, who also has achalasia to propose that these two defects are associated familial disorders in this patient.
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