Results 81 to 90 of about 1,372 (198)

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

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

Orofacial features of Treacher Collins syndrome [PDF]

, 2009
Treacher Collins syndrome (TCS) is a rare autosomal dominant disorder of craniofacial development. Major features include midface hypoplasia, micrognathia, microtia, conductive hearing loss, and cleft palate.
Bonan,Paulo Rogério Ferreti, de Barros,Letízia Monteiro, Della Coletta,Ricardo, Martelli Júnior,Hercílio, Miranda,Roseli Teixeira, Swerts,Mário Sérgio Oliveira   +5 more
core  

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

Evolution of a child with Treacher Collins syndrome undergoing physiotherapeutic treatment [PDF]

, 2017
Introduction: Treacher Collins syndrome, or mandibulofacial dysostosis, is a hereditary disorder and is manifested by craniofacial malformations. The incidence is close to one case per 40,000 live births, without relation to gender or race.
Gualberto Guimarães, Pryscilla, Martins Roberto Formiga, Cibelle Kayenne, Pavan Viana, Fabiana, Rodrigues, Bárbara Gabriela da S, Silva, Juliane Leonardo Oliveira Silva   +4 more
core   +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

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

Hearing Screening Of Infants In Neonatal Unit, Hospital Universiti Sains Malaysia Using Transient Evoked Otoacoustic Emissions [PDF]

, 2001
Objective: this prospective study reports on the prevalence of hearing impairment in neonatal unit population (NICU graduates and less severe ill infants).
Md. Daud, Mohd Khairi
core   +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: A Case Report and Review of Literature

Journal of Pediatrics Review, 2019
Introduction: Treacher Collins Syndrome (TCS) is an inherited and rare, autosomal dominant condition of craniofacial malformation with varying degrees of penetrance and expression that has been described extensively in the scientific literature with more
Effat Khodadadi, Zahra Dehghan
doaj