Results 11 to 20 of about 3,759 (221)

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

Likely Pathogenic/Pathogenic Variants in the Spliceosome Complex Genes SNRNP200, SF3B1, SF3B2, and SF3B4 Implicated in Nonsyndromic Orofacial Cleft. [PDF]

Hum Mutat
The genetic basis of nonsyndromic orofacial cleft (NsOFC) remains elusive, although associations have been identified with various genetic loci. NsOFC has a less pronounced genetic background than syndromic orofacial cleft (SyOFC), albeit Mendelian inheritance has been identified.
Ranji P, Pairet E, Helaers R, Brouillard P, Bayet B, Gerdom A, Revencu N, Vikkula M.   +7 more
europepmc   +2 more sources

The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort. [PDF]

Clin Genet
This study expands the clinical spectrum of Miller syndrome by reporting novel features including preaxial defects, facial nevus simplex, and optic atrophy. It also includes the first patients with homozygous DHODH variants, emphasizing the importance of early diagnosis and the variability of presentations, from severe prenatal to mild adult phenotypes.
Aubert Mucca M, Brunelle P, Doco Fenzy M, Vanlerberghe C, Dieux A, Feyereisen L, Jobic F, Lode L, Le Guyader G, Petit F, Schaefer E, Zaafrane-Khachnaoui K, Ziegler A, Patat O.   +13 more
europepmc   +2 more sources

Bronchial asthma, recurrent croup and bronchiectasis in a child with Crouzon syndrome: clinical observation

Медицинский совет, 2014
Crouzon syndrome (craniofacial dysostosis) is an autosomal dominant disorder, a form of craniosynostosis syndrome; characterized by premature closure of cranial sutures, midfacial hypoplasia, lower mandibular prognathism, marked proptosis and strabismus
D. Y. Ovsyannikov, T. I. Nazarova, M. A. Belyashova, M. I. Livshits, A. V. Gorbunov   +4 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

Delayed eruption of permanent dentition and maxillary contraction in patients with cleidocranial dysplasia: review and report of a family [PDF]

, 2018
Introduction. Cleidocranial dysplasia (CCD) is an inherited disease caused by mutations in the RUNX2 gene on chromosome 6p21. This pathology, autosomal dominant or caused by a spontaneous genetic mutation, is present in one in one million individuals ...
Barbato, E., Galluccio, G., Impellizzeri, A., LA MONACA, CAMILLA, Midulla, G., Romeo, U.   +5 more
core   +2 more sources

The characteristics of craniofacial and cervicovertebral morphology in different genetic syndromes – a literature review and three case reports [PDF]

, 2016
Introduction: Patients with genetic syndromes were characterized by variety of skeletal craniofacial and cervicovertebral morphology. Skeletal anomalies are recognized concomitants of the various genetic syndromes.
Jakovljević, A., Lazić, E., Nedeljković, N., Nikodijević Latinović, A.   +3 more
core   +3 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   +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

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