Results 71 to 80 of about 2,768 (208)

The Craniofacial and Upper Limb Management of Nager Syndrome

, 2016
Introduction: Nager syndrome is a rare condition characterized by craniofacial and upper limb abnormalities. It is commonly mistaken for Treacher Collins syndrome, with which it shares the same craniofacial phenotype.
McLean, NR, Anderson, PJ, Chummun, S, Mathijssen, Irene, van Nieuwenhoven, Christianne, David, DJ   +5 more
core   +1 more source

Viable Ednramice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation.

, 2016
Animal models resembling human mutations are valuable tools to research the features of complex human craniofacial syndromes. This is the first report on a viable dominant mouse model carrying a non-synonymous sequence variation within the endothelin ...
Sabrautzki, Sibylle;Sandholzer, Michael A;Lorenz-Depiereux, Bettina;Brommage, Robert;Przemeck, Gerhard;Vargas Panesso, Ingrid L;Vernaleken, Alexandra;Garrett, Lillian;Baron, Katharina;Yildirim, Ali Ö;Rozman, Jan;Rathkolb, Birgit;Gau, Christine;Hans, Wolfgang;Hoelter, Sabine M;Marschall, Susan;Stoeger, Claudia;Becker, Lore;Fuchs, Helmut;Gailus-Durner, Valerie;Klingenspor, Martin;Klopstock, Thomas;Lengger, Christoph;Stefanie, Leuchtenberger;Wolf, Eckhard;Strom, Tim M;Wurst, Wolfgang;de Angelis, Martin Hrab?
core   +2 more sources

Syndromic craniosynostosis: neuropsycholinguistic abilities and imaging analysis of the central nervous system

Arquivos de Neuro-Psiquiatria
Objective: To characterize patients with syndromic craniosynostosis with respect to their neuropsycholinguistic abilities and to present these findings together with the brain abnormalities.
Luciana Paula Maximino, Luis Gustavo Ducati, Dagma Venturini Marques Abramides, Camila de Castro Corrêa, Patrícia Fernandes Garcia, Adriano Yacubian Fernandes   +5 more
doaj   +1 more source

Cytogenetic and Clinical Assessment of a Family with Treacher Collins Syndrome

Case Reports in Medicine, 2011
Treacher Collins syndrome (TCS) is a rare autosomal dominant disorder characterized by craniofacial deformities. It is the most common type of mandibulofacial dysostosis (MFD).
Manoj Kumar, Rakesh Kumar, Mukesh Tanwar, Supriyo Ghose, Jasbir Kaur, Rima Dada   +5 more
doaj   +1 more source

Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding

The Journal of Clinical Investigation, 2023
Mutations of G protein–coupled receptors (GPCRs) cause various human diseases, but the mechanistic details are limited. Here, we establish p.E303K in the gene encoding the endothelin receptor type A (ETAR/EDNRA) as a recurrent mutation causing ...
Yukiko Kurihara, Toru Ekimoto, Christopher T. Gordon, Yasunobu Uchijima, Ryo Sugiyama, Taro Kitazawa, Akiyasu Iwase, Risa Kotani, Rieko Asai, Véronique Pingault, Mitsunori Ikeguchi, Jeanne Amiel, Hiroki Kurihara   +12 more
doaj   +1 more source

Prenatal findings in 11 cases with craniofacial microsomia using the Alberta Congenital Anomalies Surveillance System, 1997–2019

American Journal of Medical Genetics Part A, Volume 194, Issue 8, August 2024.
Abstract Craniofacial microsomia (CFM) primarily includes specific head and neck anomalies that co‐occur more frequently than expected. The anomalies are usually asymmetric and affect craniofacial features; however, there are frequently additional anomalies of variable severity. Published prenatal findings for CFM are limited. This study contributes 11
Mary Ann Thomas, Tanya Bedard, Susan Crawford, R. Brian Lowry   +3 more
wiley   +1 more source

Kefalometrische bewertung von Dysostosis Craniofacialis Crouzon

, 1979
Kefalometrijske analize latero-lateralnih rendgenograma (Hatz, Margolisi Bolton - standard), poslužile su autorima kao baza za komparativnu obradu ispitanika s dysostosis craniofacialis Crouzon u dvije generacije — u kćeri i oca. Postavljene su dijagnoze
Muretić, Želimir, Želimir Muretić, Štefanac, Jadranka, Perković, Stjepan, Jadranka Štefanac, Stjepan Perković   +5 more
core  

Towards consensus on the treatment of congenital craniofacial conditions: the discussion section of a doctoral thesis

Journal of Plastic Surgery and Hand Surgery
Background: Congenital craniofacial conditions are a diverse group of rare and complex disorders, leading to significant functional and psychosocial challenges.
Victor van Roey, Irene M.J. Mathijssen, Aebele B. Mink van der Molen, Sarah L. Versnel   +3 more
doaj   +1 more source

Surgical correction of craniofacial dysplasia

, 2000
Bu yazıda; kraniofasial displazi tanısı konulan ve 1990 ile 1997 yılları arasında kraniofasial tekniklerle birbiri ardı sıra cerrahi düzeltilmesi yapılan 13 olguluk hasta serimiz gözden geçirilmekte, sonuçlar ve karşılaşılan problemler sunulmaktadır ...
Ermiş, İsmail, Ünal, Faruk
core  

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