Výsledky vyhledávání - "Treacher Collins syndrome"

Akademický článek

Misdiagnosis of Tracher-Collins Syndrome Initially Attributed to Drug Teratogenicity: A Moroccan Case Report

Autor: Lamzouri A, EL Rherbi A, Ratbi I, Laarabi FZ, Chahboune R, Elalaoui SC, Hamdaoui H, Bencheikh RS, Sefiani A

Publikováno v: Balkan Journal of Medical Genetics, Vol 26, Iss 2, Pp 69-72 (2024)

Treacher Collins syndrome (TCS) is a rare congenital disorder of craniofacial development characterized by numerous developmental anomalies that are restricted to the head and neck. Most TCS cases are inherited in an autosomal dominant manner. The di

Externí odkaz: https://doaj.org/article/eea790235a3d499089596940d6521207

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Akademický článek

A novel intronic TCOF1 pathogenic variant in a Chinese family with Treacher Collins syndrome

Autor: Haojie Sun, Xinda Xu, Binjun Chen, Yanmei Wang, Jihan Lyu, Luo Guo, Yasheng Yuan, Dongdong Ren

Publikováno v: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-10 (2024)

Abstract Background Treacher Collins syndrome (TCS; OMIM 154500) is a craniofacial developmental disorder. Methods To investigate the genetic features of a four-generation Chinese family with TCS, clinical examinations, hearing tests, computed tomogr

Externí odkaz: https://doaj.org/article/753d9fde57094c8cb74b9258daf5fb95

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Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome

Autor: Dan‐Yan Zhuang, Shu‐Ni Sun, Zhuo‐Jie Hu, Min Xie, Yu‐Xin Zhang, Lu‐Lu Yan, Jie‐Wen Pan, Hai‐bo Li

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 12, Iss 3, Pp n/a-n/a (2024)

Abstract Background Treacher Collins Ι syndrome (TCS1, OMIM:154500) is an autosomal dominant disease with a series of clinical manifestations such as craniofacial dysplasia including eye and ear abnormalities, small jaw deformity, cleft lip, as well

Externí odkaz: https://doaj.org/article/ced6fc8613d54af5ae661ac7bcdc9e7d

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Anesthesia in Treacher Collins Syndrome for bone anchored hearing aid (BAHA) surgery.

Autor: S. Sorrenti, E. Pisello, M. Ciuffreda, L. Brugiaferri, J. Silvestri, F. Lacchè, G. Castellana, A. Buonamico, A. Pennacchi, C. Piangatelli, D. Galante

Publikováno v: Pediatric Anesthesia and Critical Care Journal (PACCJ), Vol 11, Iss 2, Pp 90-94 (2023)

Treacher Collins syndrome (TCS) is a rare genetic disor- der characterized by distinctive abnormalities of the head and face, affecting about one child in every 50000. Ab- normalities such micrognathia, cleft palate and cervical spine alterations are

Externí odkaz: https://doaj.org/article/d5d7304e1d9e47a0b5247ef5e24a6703

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INTRODUCTION: Neurofibromatosis Type 1 (NF1) or Von Recklinghausen’s disease, is a rare genetic disease characterized by multiple benign tumors of nerves and skin (neurofibromas), and skin decorations. However, it is multisystem and can affect each organ in the body, leading to debilitating effects. CLINICAL CASE: We present a case of an 18-year-old girl with NF1. The disease onset started in childhood at the age of 3 years with the appearance of hyperpigmented skin macules. Her mother also presented with multiple nodules on the face and trunk, and her little brother was reported to have disseminated macules. She had poor performance at school and delayed menses. The diagnosis of NF-1 was made, and a multidisciplinary team was involved in management of the patient CONCLUSION: Although genetic testing and confirmation are available, NF1 remains a clinical diagnosis and requires management by multidisciplinary team

Autor: B. Tuyishimire, H. Irere, C. Muhizi, A. Ndatinya, O. R. Karangwa, F. Rutagarama, C. Nsanzabaganwa, L. Mutesa

Publikováno v: Rwanda Medical Journal, Vol 79, Iss 4, Pp 9-12 (2022)

INTRODUCTION: Although Treacher-Collins syndrome has to be considered a differential diagnosis in congenital craniofacial abnormalities, the clinical diagnosis and research related to it still present a gap, especially in African regions. Thus, this

Externí odkaz: https://doaj.org/article/a8b0d83bb7e44a649e62e7c29016d74c

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Measurement of the normal mandible in neonates in east China

Autor: Shupei Jiang, Tao Han, Weimin Shen

Publikováno v: Frontiers in Pediatrics, Vol 11 (2023)

ObjectiveWe aimed to measure the related indicators of the neonatal mandible in East China. This provides basic data for the study of the mandible position and morphology of normal newborns and can also provide data support for the diagnosis, evaluat

Externí odkaz: https://doaj.org/article/f84d5f0fe94542d9a61902daa69342af

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