Results 41 to 50 of about 2,017 (144)

Clinical spectrum of Treacher Collins syndrome

Journal of Oral Biology and Craniofacial Research, 2011
: Treacher Collins syndrome (TCS) is the most common of the human mandibulofacial dysostosis disorders. It is an autosomal-dominant disorder of the craniofacial development occurring between the fifth and the eighth weeks of embryonic development with an
Divya Mehrotra, Mahdi Hasan, Rahul Pandey, Sumit Kumar   +3 more
doaj   +1 more source

Franceschetti syndrome (mandibulo-facial dysostosis) at a newborn [PDF]

Саратовский научно-медицинский журнал, 2015
The aim of the article is to present the clinical experience of conducting the patient with a congenital disease (mandibulo-facial dysostosis) resulting from defeat of the structures proceeding from the first branchial arch.
Nechaev V.N., Tereshenko V.A., Stasova Yu.V., Chernenkov Yu.V.   +3 more
doaj  

Morphological characterization of zygomatic arch, maxilla and mandible in subjects with dysostosis mandibulofacial

, 2016
Introdução: as disostoses mandibulofaciais representam um grupo de condições geneticamente heterogêneas, caracterizado principalmente por hipoplasia de arco zigomático, hipoplasia mandibular e anomalias de orelhas.
Moura, Priscila Padilha
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Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome. [PDF]

, 2009
Contains fulltext : 79589.pdf (Publisher’s version ) (Closed access)Treacher Collins syndrome (TCS, OMIM 154500) is a well-defined mandibulofacial dysostosis characterized by symmetric facial anomalies consisting of malar hypoplasia ...
Kuechler, Alma, Nicole de Leeuw, de Leeuw, Nicole, Fischer, S., Wieczorek, Dagmar, Seland, Saskia, Lohmann, Dietmar R., Kuechler, A., Dagmar Wieczorek, Wieczorek, D., Gener, B., Leeuw, N. de, Hoefsloot, Lies H., Gillessen‐Kaesbach, Gabriele, Lies H. Hoefsloot, González, Ma Jesús Martínez, Ute Hehr, Saskia Seland, Gillessen-Kaesbach, G., Seland, S., Dietmar R. Lohmann, Gener, Blanca, Lohmann, D.R., Alma Kuechler, Fischer, Sven, Sven Fischer, Hoefsloot, L.H., Hehr, U., Hehr, Ute, Gonzalez, M.J., Blanca Gener, Ma Jesús Martínez González, Gabriele Gillessen‐Kaesbach   +32 more
core   +1 more source

An Acrofacial Dysostosis Case of Rodriguez Type [PDF]

Acrofacial dysostosis (AFD) is an extremely rare syndrome, characterized by severe mandibulofacial dysostosis and various limb anomalies. Based on the variation in limb deformities, two major types are recognized: (1) Nager?type AFD, presenting ...
Fujiwara, Kumiko, Natsume, Nagato, Inoue, Sayaka, Noguchi, Makoto, Zhou, Zhibo, Asututi, Ida ayu, Ruslin, Muhammad   +6 more
core   +3 more sources

A familial case of cleidocranial dysostosis presenting upper limb ischemia

São Paulo Medical Journal
CONTEXT: Upper limb ischemia is not as common as lower limb ischemia but may cause severe impairment or disability if it is misdiagnosed. CASE REPORT: A case of a woman with cleidocranial dysostosis resulting in upper right limb ischemia is presented ...
Walter Campos Júnior, Roberta Murasaki Cardoso, Ronald Fidelis, Erasmo Simão da Silva, Rodrigo Ramos   +4 more
doaj   +1 more source

Results of the implantation of bone-anchored hearing aids in patients with treacher-collins syndrome

International Archives of Otorhinolaryngology, 2013
Summary Introduction: Treacher-Collins syndrome is characterized by craniofacial malformations, narrowing of the external auditory canal (EAC), and, in 30% of cases, agenesis of the canal and ossicular chain defects. The use of hearing aids (
Alexandra Kolontai de Sousa Oliveira, Lília Pereira Abreu Ferro, Jaiede Nicacio da Silva, Daniel Mochida Okada   +3 more
doaj   +1 more source

Recurrent Constellations of Embryonic Malformations (RCEM): Teratogenicity Linked to Transient Hypoxia and Hormone Pregnancy Tests Agrees With RCEM and Suggest a Reactive Oxygen Species Pathogenesis

Birth Defects Research, Volume 118, Issue 3, March 2026.
ABSTRACT Background No consistent genetic etiology has been found for a group of six different conditions in humans with multiple malformations called “recurrent constellations of embryonic malformations” (RCEM). Recent studies indicate hypoxia/reoxygenation and generation Reactive Oxygen Species (ROS) as an underlying mechanism for RCEM with the ...
Aaron P. Adam, Helen E. Ritchie, Margaret P. Adam, Bengt R. Danielsson   +3 more
wiley   +1 more source

Genetic Landscape of Robin Sequence: A Systematic Review

Clinical Genetics, Volume 109, Issue 2, Page 218-232, February 2026.
This systematic review summarizes the genetic landscape of Robin sequence (RS), highlighting key differences between isolated and non‐isolated forms and emphasizing the role of up‐to‐date genetic testing for diagnosis and clinical management. ABSTRACT Robin sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis, and upper ...
Shirley van de Velde, Aebele B. Mink van der Molen, Augusta M. A. Lachmeijer, Daan de Leijer, Jeroen J. Smits, Maarten P. G. Massink, Sarah L. Versnel, Marie‐José H. van den Boogaard, Emma C. Paes   +8 more
wiley   +1 more source

The Continuity of Mandibular Form in Mandibulofacial Dysostosis

, 1982
It is reported in studies of patients with Mandibulofacial Dysostosis (Treacher Collins Syndrome, MFD) that the lower border of the mandible exhibits a consistent form.
R.G. Behrents
core   +1 more source