Mandibulofacial dysostosis (Treacher‐Collins syndrome) in the fetus: Novel association with pectus carinatum in a molecularly confirmed case and review of the fetal phenotype

Konstantinidou, Anastasia; Tasoulas, Jason; Kallipolitis, Georgios; Gasparatos, Spyros; Velissariou, Voula; Paraskevakou, Helen

doi:10.1002/bdra.23202

Cited by 11 publications

(4 citation statements)

References 23 publications

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“…Of the 394 initial screened literature records, 334 records were excluded after reviewing the abstract, while 60 full articles were assessed for eligibility, 10 of them were excluded (due to no clinical features data), resulting in 43 TCOF1 1,2,8,13,17–55 and 10 POLR1 related studies 1,4,5,7,17,55–58 . Among them, there were three studies including both TCOF1 and POLR1D 1,17,55 .…”

Section: Resultsmentioning

confidence: 99%

A systematic review on Treacher Collins syndrome: Correlation between molecular genetic findings and clinical severity

et al. 2022

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Treacher Collins syndrome (TCS, OMIM: 154500) is a rare congenital craniofacial disorder that is caused by variants in the genes TCOF1, POLR1D, POLR1C, and POLR1B. Studies on the association between phenotypic variability and their relative variants are very limited. This systematic review summarized the 53 literatures from PubMed and Scopus to explore the potential TCS genotype-phenotype correlations with statistical analysis. Studies reporting both complete molecular genetics and clinical data were included. We identified that the molecular anomaly within TCOF1 (88.71%) accounted for most TCS cases. The only true hot spot for TCOF1 was detected in exon 24, with recurrent c.4369_4373delAAGAA variant is identified.While the hot spot for POLR1D, POLR1C, and POLR1B were identified in exons 3, 8, and 15, respectively. Our result suggested that the higher severity level was likely to be observed in Asian patients harboring TCOF1 variants rather than POLR1. Moreover, common 5-bp deletions tended to have a higher severity degree in comparison to any variants within exon 24 of TCOF1. In summary, this report suggested the relationship between genetic and clinical data in TCS. Our findings could be used as a reference for clinical diagnosis and further biological studies.

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Section: Resultsmentioning

confidence: 99%

A systematic review on Treacher Collins syndrome: Correlation between molecular genetic findings and clinical severity

et al. 2022

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“…5,8 Abnormalitas struktur organ lain juga sering ditemukan seperti atresia koana, celah palatum bentuk komplit ataupun submukosa, tidak terbentuknya kelenjar parotis, malformasi tulang belakang servikal, ataupun penyakit jantung kongenital. 16 Namun, kelainan-kelainan tersebut bukan merupakan karakteristik utama dan tidak selalu ditemukan pada pasien. 16 DIAGNOSIS Analisis genetik merupakan metode definitif untuk diagnosis sindrom Treacher Collins secara prenatal atau postnatal.…”

Section: Studi Genetik Menunjukkan Bahwa Sindromunclassified

“…16 Namun, kelainan-kelainan tersebut bukan merupakan karakteristik utama dan tidak selalu ditemukan pada pasien. 16 DIAGNOSIS Analisis genetik merupakan metode definitif untuk diagnosis sindrom Treacher Collins secara prenatal atau postnatal. 9 Umumnya tampilan struktur wajah mulai dapat terlihat pada usia kehamilan 30 minggu.…”

Section: Studi Genetik Menunjukkan Bahwa Sindromunclassified

Diagnosis dan Tatalaksana Sindrom Treacher Collins

Kawilarang¹

2020

CDK

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Sindrom Treacher Collins adalah penyakit genetik langka yang menyebabkan berbagai malformasi kongenital terutama di kraniofasial. Diagnosis dapat ditegakkan sejak periode prenatal atau postnatal, analisis genetik untuk menentukan adanya mutasi gen merupakan diagnosis definitif. Tatalaksana multidisiplin dengan perencanaan tindakan operatif maupun non-operatif sejak lahir sampai usia dewasa.Treacher Collins syndrome is a rare genetic disease which causes various congenital malformation mainly in the craniofacial region. Diagnosis can be made in prenatal or postnatal period, genetic analysis to determine gene mutation remains as definitive diagnosis. Management requires a multidisciplinary approach, with of either operative or non-operative planning since birth to adult.

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“…It is hypothesized that extracraniofacial anomalies occur more frequently than expected in patients with TCS. [19][20][21][22][23][24] There appear to have been no retrospective cohort studies focusing on the presence of extracraniofacial anomalies in TCS. Knowledge of the prevalence of extracraniofacial anomalies in TCS patients is important for (prenatal) screening and early intervention if needed.…”

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confidence: 99%

Extracraniofacial anomalies in Treacher Collins syndrome: A multicentre study of 248 patients

Beaumont

Dunaway

Padwa

et al. 2021

International Journal of Oral and Maxillofacial Surgery

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Treacher Collins syndrome (TCS) is a congenital malformation of the craniofacial structures derived from the first and second pharyngeal arches. The craniofacial deformities are well described in the literature. However, little is known about whether there are associated extracraniofacial anomalies. A retrospective study was conducted using data from four craniofacial units. Medical charts were reviewed for the presence and type of extracraniofacial anomalies, as well as age at diagnosis. A possible correlation between the severity of the phenotype and the presence of extracraniofacial anomalies was assessed using the Hayashi classification. A total of 248 patients with TCS were identified; 240 were confirmed to have TCS, of whom 61 (25.4%) were diagnosed with one or more extracraniofacial anomalies. Ninety-five different extracraniofacial anomalies were found; vertebral (n = 32) and cardiac (n = 13) anomalies were most frequently seen, followed by reproductive system (n = 11), central nervous system (n = 7), and limb (n = 7) anomalies. No correlations between tracts were found. Extracraniofacial anomalies were more prevalent in these patients with TCS compared to the general population (25.4% vs 0.001-2%, respectively). Furthermore, a positive trend was seen between the severity of the syndrome and the presence of extracraniofacial anomalies. A full clinical examination should be performed on any new TCS patient to detect any extracraniofacial anomalies on first encounter with the craniofacial team.

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Mandibulofacial dysostosis (Treacher‐Collins syndrome) in the fetus: Novel association with pectus carinatum in a molecularly confirmed case and review of the fetal phenotype

Cited by 11 publications

References 23 publications

A systematic review on Treacher Collins syndrome: Correlation between molecular genetic findings and clinical severity

A systematic review on Treacher Collins syndrome: Correlation between molecular genetic findings and clinical severity

Diagnosis dan Tatalaksana Sindrom Treacher Collins

Extracraniofacial anomalies in Treacher Collins syndrome: A multicentre study of 248 patients

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