Results 21 to 30 of about 790 (163)

Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts theHOXD gene cluster [PDF]

American Journal of Medical Genetics, Part A, 2007
Stevenson DA, Bleyl SB, Maxwell T, Brothman AR, South ST.   +4 more
exaly   +2 more sources

Nager′s acrofacial dysostosis

Journal of Orofacial Sciences, 2013
Acrofacial dysostosis (AFD) is a generic name for a variety of different but possibly related genetic disorders that result in craniofacial and limb malformations and are, therefore, categorized under oroacral disorders.
Arpita Rai, Kirty R Nandimath, Atul P Sattur, Venkatesh G Naikmasur   +3 more
doaj   +1 more source

Awareness about Patterson syndrome among dental students

Journal of Advanced Pharmaceutical Technology & Research, 2022
The aim is to create awareness about Patterson syndrome among dental students. Patterson-Stevenson-Fontaine syndrome is a very rare condition marked by irregular facial bone and tissue growth (mandibulofacial dysostosis) as well as limb abnormalities.
M Dhakshinya, Vishnu Priya Veeraraghavan, R Gayathri, S Kavitha   +3 more
doaj   +1 more source

Anesthetic Management of Patient for Case with Apert Syndrome

Haseki Tıp Bülteni, 2018
Apert syndrome is an autosomal dominant inherited mandibulofacial dysostosis characterized by craniosynostosis, syndactyly, high forehead, broad nose, maxillary hypoplasia, synostosis of cervical vertebrae, organ malformations, and mental retardation. It
Gamze Küçükosman, Bengü Gülhan Aydın, Bahar Aktaş, Hilal Ayoğlu   +3 more
doaj   +1 more source

Propranolol-induced gingival hyperplasia with Nager syndrome: A rare adverse drug reaction

Journal of Advanced Pharmaceutical Technology & Research, 2016
Drug reactions are a group of reactionary lesions generally show their manifestations in the oral cavity. The drug reactions may vary from local rashes to well-developed swellings in the oral cavity especially involving the gingiva.
Syed Ahamed Raheel, Omar Bashar Kujan, Bassel Tarakji, Dilshad Umar, Salah Ibrahim   +4 more
doaj   +1 more source

Treacher Collins Syndrome (mandibulofacial dysostosis) – A case report [PDF]

Romanian Journal of Neurology
Background. Treacher-Collins Syndrome (TCS) (or mandibulofacial dysostosis) is a rare autosomal dominant genetic disorder involving 1st and 2nd branchial arches present with craniofacial deformities with variable expressivity.
Praveen Sharma, Ajina Sam, Iffath Misbah, Prajwal M.N.   +3 more
doaj   +1 more source

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  

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

Evaluation of a Facial Dysmorphology Analysis Algorithm (Face2Gene) in Identifying Treacher Collins Syndrome Amongst Diverse Population

Orthodontics &Craniofacial Research, Volume 29, Issue 4, Page 680-687, August 2026.
ABSTRACT Background Treacher Collins Syndrome (TCS) is an uncommon congenital disease of the craniofacial complex. While there are ‘classic’ facial manifestations of TCS, they present with a wide range of variability. Face2Gene (F2G) is a deep‐learning algorithm that can provide differential diagnoses of syndromes via analysis of 2‐dimensional facial ...
Jie Han Timothy Sng, Jonas Jun Jie Hue, Josep Rubio‐Palau   +2 more
wiley   +1 more source