Craniofacial Microsomia and Treacher Collins Syndrome

Craniofacial malformations have been recorded since time immemorial. While observational studies have assisted in the recognition of syndromes, little light has been shed on the causal mechanisms which interfere with craniofacial development. Animal studies in which malformations occur spontaneously or have been induced by teratogenic agents have permitted step-by-step investigation of such common deformities as cleft lip and palate. The role of the ectomesenchymal cells of the neural crest and the possible phenomenon of disorganized spontaneous cell death are described in relation to lip clefts. The factors associated with isolated cleft palate, Pierre Robin syndrome and submucous clefts are described by reference to animal models. The haemorrhagic accident preceding the onset of craniofacial microsomia is discussed as is the distinctly different phenomenon of disturbance to the migration or differentiation of neural crest cells in the pathogenesis of Treacher Collins syndrome. The more severe anomalies of the calvarium such as plagiocephaly, Crouzon and Apert syndrome still defy explanation, in the absence of an appropriate animal system to study; some thoughts on the likely mechanism of abnormal sutural fusions are discussed.

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Craniofacial Syndromes Part I: Craniofacial Growth and Development, Craniosynostosis Syndromes, Craniofacial Microsomia, and Craniofacial Dysostoses

10.2310/ps.10034 ◽

2020 ◽

Author(s):

Francesca Saldanha ◽

Cory M. Resnick ◽

Carolyn R. Rogers-Vizena

Keyword(s):

Treatment Plan ◽

Treacher Collins Syndrome ◽

Apert Syndrome ◽

Craniofacial Growth ◽

Hemifacial Microsomia ◽

Crouzon Syndrome ◽

Treatment Needs ◽

Craniofacial Microsomia ◽

Nager Syndrome ◽

Craniofacial Syndromes

Craniofacial syndromes are a diverse group of congenital disorders primarily affecting structures of the head and face. Recent genetic advances have improved our ability to diagnosis specific syndromes, understand the molecular basis for abnormal embryogenesis, and anticipate future treatment needs. This is the first of a two-part series exploring the most common craniofacial disorders. This article will provide the embryologic and developmental foundation necessary to understand congenital craniofacial pathology. Clinical characteristics and molecular genetics needed to make an accurate diagnosis and formulate a treatment plan will be detailed for craniosynostosis syndromes, craniofacial microsomia, and craniofacial dysostoses. This review contains 13 figures, 4 tables, and 42 references. Keywords: craniofacial embryology, craniofacial growth, craniosynostosis, Apert syndrome, Crouzon syndrome, Pfieffer syndrome, craniofacial microsomia, hemifacial microsomia, Treacher Collins syndrome, Nager syndrome

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Case Study and Audiologic Management of a Child With Treacher Collins Syndrome

Perspectives on Aural Rehabilitation and Its Instrumentation ◽

10.1044/arii10.1.15 ◽

2002 ◽

Vol 10 (1) ◽

pp. 15-17

Author(s):

Tamara M. Scott

Keyword(s):

Treacher Collins Syndrome

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A novel nonsense mutation in the TCOF1 gene in one Chinese newborn with Treacher Collins syndrome

International Journal of Pediatric Otorhinolaryngology ◽

10.1016/j.ijporl.2020.110561 ◽

2021 ◽

Vol 141 ◽

pp. 110561

Author(s):

Haisheng Zeng ◽

Mingyu Xie ◽

Jianbo Li ◽

Haoqiang Xie ◽

Xiaomei Lu

Keyword(s):

Nonsense Mutation ◽

Treacher Collins Syndrome

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Ocular and adnexal anomalies in craniofacial microsomia: Type and prevalence in a multicentre cohort study

International Journal of Oral and Maxillofacial Surgery ◽

10.1016/j.ijom.2021.02.032 ◽

2021 ◽

Author(s):

W. Rooijers ◽

R.W. Renkema ◽

S.E. Loudon ◽

T. Khoshnaw ◽

B.L. Padwa ◽

...

Keyword(s):

Cohort Study ◽

Craniofacial Microsomia ◽

Multicentre Cohort Study ◽

Multicentre Cohort

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Recurrence of Treacher Collins' Syndrome with Sonographic Findings

Military Medicine ◽

10.1093/milmed/159.3.250 ◽

1994 ◽

Vol 159 (3) ◽

pp. 250-252 ◽

Cited By ~ 18

Author(s):

Douglas A. Milligan ◽

Frederick E. Harlass ◽

Patrick Duff ◽

Jerome N. Kopelman

Keyword(s):

Treacher Collins Syndrome

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Novel risk factors for craniofacial microsomia and assessment of their utility in clinic diagnosis

Human Molecular Genetics ◽

10.1093/hmg/ddab055 ◽

2021 ◽

Author(s):

Xiaopeng Xu ◽

Bingqing Wang ◽

Zhuoyuan Jiang ◽

Qi Chen ◽

Ke Mao ◽

...

Keyword(s):

Risk Factors ◽

Environmental Risk ◽

Neural Crest Cell ◽

Polygenic Risk Score ◽

Expression Change ◽

Ontology Term ◽

Environmental Threats ◽

Craniofacial Microsomia ◽

Hypoxic Environment ◽

Term Enrichment

Abstract Craniofacial microsomia (CFM, OMIM%164 210) is one of the most common congenital facial abnormalities worldwide, but it’s genetic risk factors and environmental threats are poorly investigated, as well as their interaction, making the diagnosis and prenatal screening of CFM impossible. We perform a comprehensive association study on the largest CFM cohort of 6074 samples. We identify 15 significant (P < 5 × 10−8) associated genomic loci (including eight previously reported) and decipher 107 candidates based on multi-omics data. Gene Ontology term enrichment found that these candidates are mainly enriched in neural crest cell (NCC) development and hypoxic environment. Single-cell RNA-seq data of mouse embryo demonstrate that nine of them show dramatic expression change during early cranial NCC development whose dysplasia is involved in pathogeny of CFM. Furthermore, we construct a well-performed CFM risk-predicting model based on polygenic risk score (PRS) method and estimate seven environmental risk factors that interacting with PRS. Single-nucleotide polymorphism-based PRS is significantly associated with CFM [P = 7.22 × 10−58, odds ratio = 3.15, 95% confidence interval (CI) 2.74–3.63], and the top fifth percentile has a 6.8-fold CFM risk comparing with the 10th percentile. Father’s smoking increases CFM risk as evidenced by interaction parameter of −0.324 (95% CI −0.578 to −0.070, P = 0.011) with PRS. In conclusion, the newly identified risk loci will significantly improve our understandings of genetics contribution to CFM. The risk prediction model is promising for CFM prediction, and father’s smoking is a key environmental risk factor for CFM through interacting with genetic factors.

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