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Craniofacial Surgery
Published in John C Watkinson, Raymond W Clarke, Christopher P Aldren, Doris-Eva Bamiou, Raymond W Clarke, Richard M Irving, Haytham Kubba, Shakeel R Saeed, Paediatrics, The Ear, Skull Base, 2018
Benjamin Robertson, Sujata De, Astrid Webber, Ajay Sinha
Unlike hemifacial microsomia, Treacher Collins syndrome is an autosomal dominant condition, although approximately 50% of cases have no family history and therefore represent new mutations. Its incidence is approximately 1: 50 000 live births.74 Severity is very variable and other family members may be very mildly affected. Intelligence is usually normal. Treacher Collins syndrome is caused by mutations in the gene TCOF1.75
Case 2.12
Published in Monica Fawzy, Plastic Surgery Vivas for the FRCS(Plast), 2023
What is Treacher Collins syndrome?This is a facial cleft 6–8 syndrome which may be autosomal dominant, or sporadic – with a variable phenotype in 1:50,000 births.It is caused by a mutation in chromosome 5, mostly of the TCOF1 gene or more rarely the POLR1D or POLR1C genes – which encode for Treacle protein, and subsequent p53-dependent neuroepithelial apoptosis and neural crest hypoplasia.Typical features include:eye anomalies such as:downslanting palpebral fissures,a quadrilateral palpebral fissure, andlower eyelid colobomas,ear anomalies such as bilateral microtia, with or without middle/inner ear malformations,hypoplasia of the midface, with or without cleft palate, andhypoplasia of the mandible.
Clinical and histological features and outcomes of upper eyelid colobomas in the Saudi population
Published in Orbit, 2020
Dalal Al Essa, Rajiv Khandekar, Alicia Galindo-Ferreiro, Deepak P. Edward, Azza Maktabi, Hailah Al Hussein, Osama Al Sheikh, Diego Strianese, Silvana A. Schellini
The 15 unilateral (55.6%) and 12 bilateral (44.4%) cases had similar clinical features. The majority of patients presented with isolated CEC (17 patients; 62.9%), and 10 patients (37.1%) presented with CEC associated with systemic or craniofacial defects. The associated syndromes included Goldenhar syndrome (5 patients; 50%), and Treacher-Collins syndrome (1 patient; 10%) (Table 3). Abnormal developmental milestones were noted in 4 patients (14.8%). Cryptophthalmos (total closure) was observed in 3 patients (11.1%; see Table 3). The most common ocular abnormalities related to CEC were corneal adhesion (18 eyes; 46.2%) and poorly formed eyebrows (21 eyebrows; 53.8%). The medial aspect of the upper lid was the most common location (56.4%). Twenty-seven (69.2%) lids had full thickness involvement (Table 3; Figure 1).
Genotype-phenotype variability in Chinese cases of Treacher Collins syndrome
Published in Acta Oto-Laryngologica, 2019
Xiaohong Li, Yu Su, Shasha Huang, Bo Gao, Dejun Zhang, Xiaobin Wang, Qin Gao, Hong Pang, Yan Zhao, Yongyi Yuan, Pu Dai
Treacher Collins syndrome (TCS, OMIM 154500) occurs in the general population at an estimated incidence of 1/50,000 live births [1]. TCS was first defined in 1900 by the English ophthalmologist Edward Treacher Collins, after whom it is named. TCS involves craniofacial dysostosis, particularly of the first and second branchial arches. It is generally characterized by zygomatic complex hypoplasia, mandibular micrognathia with retrognathia, and a prominent nose, which causes a unique “bird-like” face. Other basic features of TCS include coloboma of the lower eyelids, downslanting palpebral fissures, sparse eyelashes, cleft lip, and malformation of the external or middle ear resulting in conductive hearing loss.
Ribosomopathies and cancer: pharmacological implications
Published in Expert Review of Clinical Pharmacology, 2022
Gazmend Temaj, Sarmistha Saha, Shpend Dragusha, Valon Ejupi, Brigitta Buttari, Elisabetta Profumo, Lule Beqa, Luciano Saso
3) Treacher Collins Syndrome (TCS) is an autosomal dominant disease caused by a mutation in the treacle protein, which plays a role in rDNA transcription and pre-rRNA methylation [236]. TCS manifests with craniofacial and eye abnormalities and alterations of the external ears [237]. To date, more than 200 mutations have been found to be involved in this disease, including deletions, insertions, nonsense mutations, and alternative splicing [57].