Results 11 to 20 of about 2,768 (208)

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   +2 more sources

Limbal dermoid in Nager acrofacial dysostosis: A rare case report

Indian Journal of Ophthalmology, 2014
Nager syndrome, also called preaxial acrofacial dysostosis, comprises two groups of defects involving the limbs and craniofacial region, respectively. This syndrome is rare and only 70 cases have been reported in the literature.
Rohit Malik, Sumit Goel, Saurabh Aggarwal   +2 more
doaj   +2 more sources

The Development of a European Registry for Facial Dysostosis Syndromes: A Delphi-Guided Approach. [PDF]

J Craniofac Surg
Acrofacial dysostosis; Delphi technique; Miller syndromeDisostosis acrofacial; Técnica Delphi; Síndrome de MillerDisostosi acrofacial; Tècnica Delphi; Síndrome de MillerCraniosynostosis is a multigenic congenital condition in which one or more calvarial ...
van Roey VL, Ombashi S, Mathijssen IMJ, Munkhammar ÅA, Åsten PM, Bouzariouh A, Célérier C, Dana C, van Dooren M, Faasse M, Fauroux B, Frykholm P, Heinen A, Heliövaara A, Joosten KFM, Kljajic M, Larsson E, Loudon S, Marinac I, Munill Ferrer M, Poldermans H, Stattin EL, Streppel M, Svensson M, Thierry B, Tjoa STH, Topa A, Weissbach E, Wolvius EB, Zafra Vallejo V, Versnel SL.   +30 more
europepmc   +4 more sources

Craniofacial Dysostosis [PDF]

, 2020
openaire   +2 more sources

Case Report of a Novel EVC Gene Mutation in Ellis-van Creveld Syndrome: Implications for Pediatric Dental Management. [PDF]

Case Rep Dent
Introduction Ellis–van Creveld (EVC) syndrome, also known as chondroectodermal dysplasia, is a rare autosomal recessive disorder that affects multiple embryonic tissues. It is primarily caused by mutations in the EVC gene. Patient Information We report an 11‐year‐old male diagnosed with EVC syndrome, who carries a novel homozygous pathogenic mutation ...
Shariati M, Tavassoli-Hojjati S, Hoseini AP, Jadidi H.   +3 more
europepmc   +2 more sources

Crouzon syndrome in a ten-week-old infant: A case report

Saudi Journal of Medicine and Medical Sciences, 2020
Crouzon syndrome is a rare genetic disorder. We report a rare case of Crouzon syndrome in a very young infant with distinct features of craniofacial malformations.
Sangeeta Gupta, Arun Prasad, Upasna Sinha, Ramji Singh, Gaurav Gupta   +4 more
doaj   +1 more source

The Role of the U5 snRNP in Genetic Disorders and Cancer

Frontiers in Genetics, 2021
Pre-mRNA splicing is performed by the spliceosome, a dynamic macromolecular complex consisting of five small uridine-rich ribonucleoprotein complexes (the U1, U2, U4, U5, and U6 snRNPs) and numerous auxiliary splicing factors.
Katherine A. Wood, Katherine A. Wood, Megan A. Eadsforth, William G. Newman, William G. Newman, Raymond T. O’Keefe   +5 more
doaj   +1 more source

Bilateral absence of fifth ray in feet, cleft palate, malformed ears, and corneal opacity in a patient with Miller syndrome

Egyptian Journal of Medical Human Genetics, 2014
Background: Miller syndrome is one of the acrofacial dysostosis syndromes, which are characterized by malformations of the craniofacial region and limbs.
Rabah M. Shawky, Nermine Amr, Heba Salah, Shaimaa Gad   +3 more
doaj   +1 more source

Midface advancement in an adult patient with Crouzon syndrome: Modified LeFort III + LeFort I osteotomy accompanied by genioplasty and nasal dorsum augmentation

Dental Research Journal, 2022
Crouzon syndrome is an autosomal dominant trait, leading to midface deficiency, undeveloped orbits, short nasal dorsum, and exophthalmos as the typical clinical features.
Milad Etemadi Sh, Golnaz Tajmiri
doaj   +1 more source

Nager Syndrome: A Case Report

Pediatrics and Neonatology, 2012
Nager syndrome (preaxial acrofacial dysostosis) is rare and mostly sporadic. We present a case of Nager syndrome in Taiwan. Craniofacial findings included micrognathia, malar hypoplasia, downslanting palpebral fissures, cleft palate, and ear anomalies ...
Ju-Li Lin
doaj   +1 more source