Results 51 to 60 of about 790 (163)

Treacher Collins Syndrome

Journal of Indian Academy of Oral Medicine and Radiology, 2010
Treacher Collins syndrome is a rare autosomal dominant condition, predominantly affecting the orofacial structures. The incidence varies between 1 in 40,000 to 1 in 70,000 per live births.
Alexander, Peter Sherry
doaj  

Updated EUROCAT guidelines for classification of cases with congenital anomalies

Birth Defects Research, Volume 116, Issue 2, February 2024.
Abstract Background Precise and correct classification of congenital anomalies is important in epidemiological studies, not only to classify according to etiology but also to group similar congenital anomalies together, to create homogeneous subgroups for surveillance and research.
Jorieke E. H. Bergman, Annie Perraud, Ingeborg Barišić, Agnieszka Kinsner‐Ovaskainen, Joan K. Morris, David Tucker, Diana Wellesley, Ester Garne   +7 more
wiley   +1 more source

Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses

Frontiers in Genetics, 2020
BackgroundDefects in the development of the first and second pharyngeal arches and their derivatives result in abnormal formation of the craniofacial complex, consequently giving rise to facial dysostoses (FDs).
Ewelina Bukowska-Olech, Ewelina Bukowska-Olech, Anna Materna-Kiryluk, Anna Materna-Kiryluk, Joanna Walczak-Sztulpa, Delfina Popiel, Magdalena Badura-Stronka, Magdalena Badura-Stronka, Grzegorz Koczyk, Grzegorz Koczyk, Adam Dawidziuk, Aleksander Jamsheer, Aleksander Jamsheer   +12 more
doaj   +1 more source

Prevalence of craniosynostosis in Finland, 1987–2010: A population‐based study

Birth Defects Research, Volume 116, Issue 2, February 2024.
Abstract Background Craniosynostosis is a prevalent craniofacial malformation in Finland; however, comprehensive population‐based epidemiological data are limited. This study aimed to estimate the total and birth prevalence of craniosynostosis in Finland from 1987 to 2010 and examine temporal trends.
Pia Vuola, Niklas Pakkasjärvi, Annukka Ritvanen, Arja Heliövaara, Erkki Tukiainen, Mika Gissler   +5 more
wiley   +1 more source

As alterações fonoaudiológicas na síndrome de Goldenhar: relato de caso Speech, language and hearing deficits in the Goldenhar syndrome: case report

Revista da Sociedade Brasileira de Fonoaudiologia, 2008
O objetivo do trabalho foi relatar um caso clínico sobre a síndrome de Goldenhar e realizar um levantamento das alterações fonoaudiológicas encontradas no mesmo.
Rafaela Carolina Lopez Silva, Fabiana Faúla da Silva Alves, Sírley Soares Gonzaga Netto, Carla Menezes da Silva   +3 more
doaj   +1 more source

EFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway

Human Genomics, 2019
Background Mandibulofacial dysostosis with microcephaly (MFDM) is characteristic of multiple skeletal anomalies comprising craniofacial anomalies/dysplasia, microcephaly, dysplastic ears, choanal atresia, and short stature.
Jing Wu, Yi Yang, You He, Qiang Li, Xu Wang, Chengjun Sun, Lishun Wang, Yu An, Feihong Luo   +8 more
doaj   +1 more source

A CASE OF TREACHER COLLINS SYNDROME

Balkan Journal of Medical Genetics, 2013
Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with an incidence of 1/50,000 live births. Mutations of the TCOF1 gene have been found to be responsible for most cases of this mandibulofacial disorder.
Ulusal S., Gürkan H., Vatansever Ü., Kürkçü K., Tozkir H., Acunaş Ba.   +5 more
doaj   +1 more source

Oculo-auriculo-vertebral Spectrum (Goldenhar′s Syndrome) - A Case Report

Journal of Indian Academy of Oral Medicine and Radiology, 2005
Goldenhar′s syndrome also known as Hemifacial microsomia and Oculo auriculo vertebral dysplasia is a type of mandibulofacial dysostosis, with ocular problems, abnormal pinna, a small mandible and epibulbar dermoids.
N Mohan
doaj  

Treacher collins syndrome - Report of a classical case

Journal of Cleft Lip Palate and Craniofacial Anomalies, 2017
Treacher Collins syndrome (TCS) or Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. Incidence of this syndrome is approximately 1 in 50,000 live births and it affects both genders equally ...
Shweta Gangotri Sumbh, Jaishree Pagare, Bharat Sumbh   +2 more
doaj   +1 more source

A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report. [PDF]

Cold Spring Harb Mol Case Stud, 2022
Kohailan M, Al-Saei O, Padmajeya S, Aamer W, Elbashir N, Al-Shabeeb Akil A, Kamboh AR, Fakhro K.   +7 more
europepmc   +1 more source