Results 101 to 110 of about 3,759 (221)

بررسی استفاده از پیچ و پلاک‌های ساخته شده از مش قابل جذب در اصلاح ناهنجاری‌های پیشانی و کاسة چشم در 20 بیمار مبتلا به کرانیوسینوستوز [PDF]

, 2010
زمینه و هدف: اصلاح ناحیه فرم پیشانی و کاسه چشم روش درمانی انتخابی برای بیماران مبتلا به کرانیوسینوستوز است که قسمت قدامی جمجمه و اربیت را درگیر کرده است.
حسن‌پور, سید اسماعیل, فرزان, عبدالناصر   +1 more
core  

3D computer-aided single stage correction of Crouzon related craniofacial and occlusal deformities: A case series of three adult patients

Oral and Maxillofacial Surgery Cases
Background: Single-stage surgical correction of Crouzon syndrome aims to remodel the cranial vault to achieve a morphology approaching age-matched norms.
Hossam Hassan Fawzy, Hesham Abo Rahma, Moaz Elsheikh, Mohamed Abdalla Elnahas, Khaled Adel Eid, Yasser Elsheikh   +5 more
doaj   +1 more source

Evolution of a child with Treacher Collins syndrome undergoing physiotherapeutic treatment

Fisioterapia em Movimento
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.
Bárbara Gabriela da S. Rodrigues, Juliane Leonardo Oliveira Silva, Pryscilla Gualberto Guimarães, Cibelle Kayenne Martins Roberto Formiga, Fabiana Pavan Viana   +4 more
doaj   +1 more source

Uniparental disomy 7 in Silver—Russell syndrome and primordial growth retardation [PDF]

, 2017
Maternal uniparental disomy for the entire chromosome 7 has so far been reported in three patients with intrauterine and postnatal growth retardation. Two were detected because they were homozygous for a cystic fibrosis mutation for which only the mother
Bernasconi, Fabiana, Hamel, Ben C.J., Hergersberg, Martin, Ilyina, Helena, Kotzot, Dieter, Lurie, Iosif W., Méhes, Károly, Otten, Barto J., Robinson, Wendy P., Schinzel, Albert, Schmitt, Silke, Schoenle, Eugen, Werder, Edmond   +12 more
core  

Craniofacial Dysostosis [PDF]

, 2020
openaire   +1 more source

A Fatal Case of Generalized Lysosomal Storage Disease in an Infant. [PDF]

, 2010
Gangliosidoses are a heterogeneous group of lysosomal storage diseases with an autosomal recessive trait, which are characterized by the intracellular accumulation of gangliosides in several tissues, mainly in neurons.
Ancer Rodríguez, Jesús, Barboza Quintana, Oralia, Barboza Quintana, Álvaro, Garza Alatorre, Arturo Gerardo, Melo de la Garza, Américo, Ponce Camacho, Marco Antonio, Ramírez Bon, Enrique, Rodríguez Gutiérrez, Nora Alicia   +7 more
core  

DIAGNOSIS AND FOLLOW-UP OF COMPLEX CONGENITAL MALFORMATIONS/MENTAL RETARDATION (MRA/MR) [PDF]

, 2013
Complex congenital malformations, associated in 30% of cases with mental retardation, recognize different etiologies: environmental causes, mendelian disease, chromosomal abnormalities, imprinted anomalies.
Agrifoglio, M, BALLACCHINO, Antonella Serena Chiara, Busè, M, Consiglio, V, GRAZIANO, Francesco Paolo, MARTINES, Francesco, PIRO, Ettore, Salvago, P, SALZANO, Emanuela, SANFILIPPO, Cinzia, Sireci, F, VECCHIO, Davide   +11 more
core  

Mutation c.943G>T (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family. [PDF]

Mol Syndromol, 2017
Graul-Neumann LM, Klopocki E, Adolphs N, Mensah MA, Kress W.   +4 more
europepmc   +1 more source

The transcription of the main gene associated with Treacher–Collins syndrome (TCOF1) is regulated by G-quadruplexes and cellular nucleic acid binding protein (CNBP)

Scientific Reports
Treacle ribosome biogenesis factor 1 (TCOF1) is responsible for about 80% of mandibular dysostosis (MD) cases. We have formerly identified a correlation between TCOF1 and CNBP (CCHC-type zinc finger nucleic acid binding protein) expression in human ...
Mauco Gil Rosas, Cielo Centola, Mercedes Torres, Valeria S. Mouguelar, Aldana P. David, Ernesto J. Piga, Dennis Gomez, Nora B. Calcaterra, Pablo Armas, Gabriela Coux   +9 more
doaj   +1 more source

The ultrasonic detection of an isolated craniosynostosis [PDF]

, 1995
Cohen-Overbeek, T.E. (Titia), Ham, L.I. (L.) van der, Paz y Geuze, D. (Daniel), Vermeij-Keers, C. (Christl)   +3 more
core   +2 more sources