Works matching DE "FACIAL abnormalities"

Results: 1537

Esthetic subunit approach in massive facial plexiform neurofibroma: a case report.

Published in:

Cirugía Pediátrica (English Edition), 2020, v. 33, n. 4, p. 204

By:

de la Torre Macías, M.;
Berenguer Frohner, B.;
Lorca García, C.;
de Tomás Palacios, E.

Publication type:

Article

A Rare Case of XXXXY Syndrome with a (4;19) Translocation from Northeast Iran.

Published in:

Case Reports in Clinical Practice, 2024, v. 9, n. 6, p. 248, doi. 10.18502/crcp.v9i6.18943

By:

Mazhari, Arefeh;
Jafaei, Elham;
Soltani, Narjes;
Siyadat, Payam;
Ayatollahi, Amirali;
Ayatollahi, Hossein

Publication type:

Article

CDK13‐Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management.

Published in:

Clinical Genetics, 2025, v. 108, n. 2, p. 146, doi. 10.1111/cge.14726

By:

Contrò, Gianluca;
Baroni, Maria Chiara;
Caraffi, Stefano Giuseppe;
Napoli, Manuela;
Artuso, Rosangela;
Giliberti, Annarita;
Bargiacchi, Sara;
Mancano, Giorgia;
Traficante, Giovanna;
Mucciolo, Mafalda;
Radio, Francesca Clementina;
Cordeddu, Viviana;
Mancini, Cecilia;
Bottillo, Irene;
Pirro, Federica Anna;
Bonati, Maria Teresa;
Becker, Cord‐Christian;
Carli, Diana;
Mussa, Alessandro;
Gonzalez, Maria Isis Atallah

Publication type:

Article

Establishing an algorithm for molecular genetic diagnostics in Chinese children with brachydactyly type E.

Published in:

Frontiers in Endocrinology, 2025, p. 1, doi. 10.3389/fendo.2025.1571136

By:

Wang, Xueqian;
Guan, Shengzhuang;
Gao, Yiqing;
Xie, Rongrong;
Wang, Fengyun;
Chen, Xiuli;
Wu, Haiying;
Zhang, Xiaohui;
Zhang, Dandan;
Yang, Bingyu;
Fan, Qisang;
Wang, Qing;
Wang, Hongying;
Feng, Tao;
Lv, Haitao;
Chen, Ting

Publication type:

Article

Síndrome de Kabuki. Informe de un caso.

Published in:

Acta Pediatrica de Mexico, 2006, v. 27, n. 6, p. 349

By:

Avina-Fierro, Jorge Arturo;
Perez-Ornelas, Nestor Bernardo

Publication type:

Article

First prenatal diagnosis of a ‘pure’ 9q34.3 deletion (Kleefstra syndrome): A case report and literature review.

Published in:

Journal of Obstetrics & Gynaecology Research, 2018, v. 44, n. 3, p. 570, doi. 10.1111/jog.13517

By:

Guterman, Sarah;
Hervé, Bérénice;
Rivière, Julie;
Fauvert, Delphine;
Clement, Patrice;
Vialard, François

Publication type:

Article

Chronic Disfiguring Facial Lesions in an Immunocompetent Patient Due to Exophiala spinifera: A Case Report and Review of Literature.

Published in:

Mycopathologia, 2012, v. 174, n. 4, p. 293, doi. 10.1007/s11046-012-9548-5

By:

Singh, Gagandeep;
Shivaprakash, M.;
De, Dipankar;
Gupta, Prerna;
Gupta, Sunita;
Kanwar, A.;
Chakrabarti, Arunaloke

Publication type:

Article

12p microRNA expression in fibroblast cell lines from probands with Pallister-Killian syndrome.

Published in:

Chromosome Research, 2014, v. 22, n. 4, p. 453, doi. 10.1007/s10577-014-9431-y

By:

Izumi, Kosuke;
Zhang, Zhe;
Kaur, Maninder;
Krantz, Ian

Publication type:

Article

An intra-oral approach for facial nontuberculous mycobacterial infection.

Published in:

Pediatric Surgery International, 2004, v. 20, n. 8, p. 628, doi. 10.1007/s00383-004-1245-0

By:

Merriman, Tracey

Publication type:

Article

Quantitative evaluation of facial hypoplasia and airway obstruction in infants with syndromic craniosynostosis: relationship with skull base and splanchnocranium sutural pattern.

Published in:

Neuroradiology, 2018, v. 60, n. 5, p. 517, doi. 10.1007/s00234-018-2005-5

By:

Calandrelli, Rosalinda;
Pilato, Fabio;
Massimi, Luca;
Panfili, Marco;
D’Apolito, Gabriella;
Gaudino, Simona;
Colosimo, Cesare

Publication type:

Article

Multidisciplinary treatment of a patient with TMJ ankylosis and a severe dentofacial discrepancy: A case report.

Published in:

Journal of Orthodontics, 2025, v. 52, n. 2, p. 133, doi. 10.1177/14653125241268733

By:

Khan, Sara;
Nazir, Rozina;
Hanif, Maidah

Publication type:

Article

The application of the Index of Orthognathic Functional Treatment Need (IOFTN): service evaluation and impact.

Published in:

Journal of Orthodontics, 2017, v. 44, n. 2, p. 97, doi. 10.1080/14653125.2017.1311446

By:

Howard-Bowles, Eamon;
Ho-A-Yun, John;
Ulhaq, Aman;
McGuinness, Niall J. P.

Publication type:

Article

Treatment of hemifacial microsomia in a growing child: the importance of co-operation between the orthodontist and the maxillofacial surgeon.

Published in:

Journal of Orthodontics, 2004, v. 31, n. 3, p. 190, doi. 10.1179/146531204225022407

By:

Moulin-Romsée, C.;
Verdonck, A.;
Schoenaers, J.;
Carels, C.

Publication type:

Article

A Rare Disease with Arthrogryposis: Pena-Shokeir Syndrome.

Published in:

Türkiye Klinikleri Journal of Case Reports, 2021, v. 29, n. 2, p. 85, doi. 10.5336/caserep.2020-80178

By:

ÖZALP, Miraç;
DEMİR, Ömer;
OSMANAĞAOĞLU, Mehmet Armağan

Publication type:

Article

Hemangioma: A rare association of Escobar (Multiple pterygium) syndrome.

Published in:

Medicine Science, 2021, v. 10, n. 3, p. 1049, doi. 10.5455/medscience.2020.11.239

By:

Tekin, Emine;
Goktas, Emine;
Aymelek, Huri Sema;
Koker, Sultan Aydin;
Memur, Seyma

Publication type:

Article

A rare condition: Larsen Syndrome.

Published in:

TMR Integrative Nursing, 2020, v. 4, n. 6, p. 215, doi. 10.12032/TMRIN20201202

By:

Alshdefat, Aisha;
Bidchol, Abdu Mueed;
Prabhakaran, Harshita;
Alshdaifat, Abdalla

Publication type:

Article

Gorlin-Goltzův syndrom - kazuistika.

Published in:

Dermatologie Pro Praxi, 2022, v. 16, n. 1, p. 45, doi. 10.36290/der.2022.008

By:

Blažková, Martina

Publication type:

Article

Social Media as a Platform for Cyberbullying of Individuals With Craniofacial Anomalies: A Preliminary Survey.

Published in:

Language, Speech & Hearing Services in Schools, 2021, v. 52, n. 3, p. 840, doi. 10.1044/2021_LSHSS-20-00159

By:

Jones, Alexis;
Plumb, Allison M.;
Sandage, Mary J.

Publication type:

Article

COLLABORATION BETWEEN ORTHODONTIST AND MAXILLOFACIAL SURGEON ON THE MANAGEMENT OF CLASS III MALOCCLUSION THROUGH LE FORT I OSTEOTOMY.

Published in:

Knowledge: International Journal, 2024, v. 66, n. 4, p. 335

By:

Isufi, Aurora;
Isufi, Renato;
Mulo, Virgjini;
Kanurkova, Lidija

Publication type:

Article

Facial Survey Among Nepalese Preclinical Students Studying at Kathmandu Medical College Teaching Hospital.

Published in:

Indian Journal of Basic & Applied Medical Research, 2017, v. 6, n. 4, p. 463

By:

Nripendra, Tiwari;
Abhishek, Tiwary;
Sushil, Kharel;
Kumar, Karki Prabin;
Paramananda, Gogoi;
Khrishna, Malla Banshi

Publication type:

Article

Facial asymmetry is negatively related to condition in female macaque monkeys.

Published in:

Behavioral Ecology & Sociobiology, 2012, v. 66, n. 9, p. 1311, doi. 10.1007/s00265-012-1386-4

By:

Little, Anthony;
Paukner, Annika;
Woodward, Ruth;
Suomi, Stephen

Publication type:

Article

Does Ankyloglossia Surgery Promote Normal Facial Development? A Systematic Review.

Published in:

Journal of Clinical Medicine, 2025, v. 14, n. 1, p. 81, doi. 10.3390/jcm14010081

By:

Kotarska, Małgorzata;
Wądołowska, Alicja;
Sarul, Michał;
Kawala, Beata;
Lis, Joanna

Publication type:

Article

Cranio-Facial Characteristics in Autism Spectrum Disorder: A Scoping Review.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 3, p. 729, doi. 10.3390/jcm13030729

By:

Quatrosi, Giuseppe;
Genovese, Dario;
Galliano, Giuseppe;
Zoppé, Hugo;
Amodio, Emanuele;
Bonnet-Brilhault, Fréderique;
Tripi, Gabriele

Publication type:

Article

Fetal Nasal Bone Hypoplasia in the Second Trimester as a Marker of Multiple Genetic Syndromes.

Published in:

Journal of Clinical Medicine, 2022, v. 11, n. 6, p. 1513, doi. 10.3390/jcm11061513

By:

Moczulska, Hanna;
Serafin, Marcin;
Wojda, Katarzyna;
Borowiec, Maciej;
Sieroszewski, Piotr

Publication type:

Article

Prevalence of Orofacial Clefts and Associated Factors in Infants.

Published in:

Journal of Babol University of Medical Sciences, 2021, v. 23, n. 1, p. 421

By:

Khosroshahian, S.;
Mehdipoor, A.;
Aghaali, M.;
Salehi, F.;
Rahimi, H.

Publication type:

Article

When your face doesn't fit: employment discrimination against people with facial disfigurements.

Published in:

Journal of Applied Social Psychology, 2013, v. 43, n. 3, p. 515, doi. 10.1111/j.1559-1816.2013.01032.x

By:

Stone, Anna;
Wright, Toby

Publication type:

Article

Infantile Childhood Onset of Spinocerebellar Ataxia Type 2.

Published in:

Cerebellum, 2012, v. 11, n. 2, p. 526, doi. 10.1007/s12311-011-0315-9

By:

Di Fabio, Roberto;
Santorelli, Filippo;
Bertini, Enrico;
Balestri, Martina;
Cursi, Laura;
Tessa, Alessandra;
Pierelli, Francesco;
Casali, Carlo

Publication type:

Article

Parry–Romberg syndrome associated with borreliosis: could photochemotherapy halt the progression of the disease?

Published in:

Photodermatology, Photoimmunology & Photomedicine, 2006, v. 22, n. 5, p. 259, doi. 10.1111/j.1600-0781.2006.00238.x

By:

Baskan, Emel Bulbul;
Kaçar, Seval Doğruk;
Turan, Ayşegül;
Saricaoglu, Hayriye;
Tunali, Sukran;
Adim, Saduman Balaban

Publication type:

Article

Facing a Disruptive Face: Embodiment in the Everyday Experiences of 'Disfigured' Individuals.

Published in:

Human Studies, 2017, v. 40, n. 2, p. 285, doi. 10.1007/s10746-017-9426-8

By:

Yaron, Gili;
Meershoek, Agnes;
Widdershoven, Guy;
van den Brekel, Michiel;
Slatman, Jenny

Publication type:

Article

A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation.

Published in:

Genetics Research, 2019, v. 101, p. N.PAG, doi. 10.1017/S0016672319000041

By:

Jaouadi, Hager;
Chehida, Amel Ben;
Kraoua, Lilia;
Etchevers, Heather C.;
Argiro, Laurent;
Kasdallah, Nadia;
Blibech, Sonia;
Delague, Valérie;
Lévy, Nicolas;
Tebib, Néji;
Mrad, Ridha;
Abdelhak, Sonia;
Benkhalifa, Rym;
Zaffran, Stéphane

Publication type:

Article

Challenges in Managing Ivemark’s Syndrome With Complete Congenital Heart Disease and Asplenia: A Rare Case Report From Developing Country.

Published in:

Malaysian Journal of Medicine & Health Sciences, 2024, v. 20, p. 132, doi. 10.47836/mjmhs.20.s6.30

By:

Safrida, Elysa Nur;
Syahputra, Reza;
Hartomo, Tri Budi;
Anggraini, Alifah;
Wibowo, Tunjung;
Wandita, Setya;
Haksari, Ekawaty Lutfia

Publication type:

Article

ORTHOGNATHIC TREATMENT OF A PATIENT WITH CLASS III MALOCCLUSION AND SEVERE FACIAL ASYMMETRY: REPORT OF A CASE.

Published in:

2017

By:

GÖRÜCÜ COŞKUNER, Hande;
KOCADERELİ, İlken;
KONAŞ, Ersoy

Publication type:

Case Study

Difficult Airway Management in a Child with Goldenhar Syndrome: A Case Report.

Published in:

Sri Lankan Journal of Anaesthesiology, 2021, v. 29, n. 1, p. 59, doi. 10.4038/slja.v29i1.8648

By:

Munasinghe, Malaka;
Subramaniam, Nishanthan;
Srisothinathan, Nimalan;
Ranatunga, Binoy;
Ranaweera, Kasun;
Rathuwithana, Charith;
Appuhamy, Ajith

Publication type:

Article

Genome‐wide association analysis for lethal brachycephalic‐like facial dysmorphia in Labrador Retrievers.

Published in:

Animal Genetics, 2020, v. 51, n. 1, p. 122, doi. 10.1111/age.12875

By:

Vasiliadis, D.;
Dierks, C.;
Hoffmann, H.;
Hellige, M.;
Hewicker‐Trautwein, M.;
Metzger, J.;
Distl, O.

Publication type:

Article

Antiepileptic drugs ( AEDs) during pregnancy and risk of congenital jaw and oral malformation.

Published in:

Oral Diseases, 2013, v. 19, n. 7, p. 712, doi. 10.1111/odi.12061

By:

Koo, J;
Zavras, A

Publication type:

Article

Invited Speakers - Plenary Sessions.

Published in:: 2008
Publication type:: Abstract

First case of Rubinstein–Taybi syndrome with desquamation associated with a novel mutation in the bromodomain of the CREBBP gene.

Published in:

Clinical & Experimental Dermatology, 2019, v. 44, n. 5, p. e205, doi. 10.1111/ced.13871

By:

Wang, L.;
Deng, Y.;
Zhou, X.‐L.;
Ma, J. J.;
Li, W.

Publication type:

Article

Periodic facial erythema in a patient with postural orthostatic tachycardia syndrome.

Published in:

Clinical & Experimental Dermatology, 2018, v. 43, n. 1, p. 100, doi. 10.1111/ced.13246

By:

Khan, S.;
Affleck, A.

Publication type:

Article

A homozygous missense mutation in PEPD encoding peptidase D causes prolidase deficiency associated with hyper-IgE syndrome.

Published in:

Clinical & Experimental Dermatology, 2006, v. 31, n. 3, p. 435, doi. 10.1111/j.1365-2230.2006.02112.x

By:

Hershkovitz, T.;
Hassoun, G.;
Indelman, M.;
Shlush, L. I.;
Bergman, R.;
Pollack, S.;
Sprecher, Eli

Publication type:

Article

Hallermann–Streiff syndrome: A case review.

Published in:

Clinical & Experimental Dermatology, 2004, v. 29, n. 5, p. 477, doi. 10.1111/j.1365-2230.2004.01572.x

By:

Mirshekari, A.;
Safar, F.

Publication type:

Article

Disseminated superficial actinic porokeratosis occurring in two members of an Asian family.

Published in:

Clinical & Experimental Dermatology, 1997, v. 22, n. 6, p. 280, doi. 10.1111/j.1365-2230.1997.tb01096.x

By:

Holmes, G.;
Sidhhu, S.;
Wakelin, S. H.;
Orton, D.;
Marren, P.

Publication type:

Article

Melkerssohn-Rosenthal syndrome with positive Kveim test.

Published in:

Clinical & Experimental Dermatology, 1988, v. 13, n. 1, p. 49, doi. 10.1111/j.1365-2230.1988.tb00651.x

By:

Nelson, H. M.;
Stevenson, A. G.

Publication type:

Article

Review of the external carotid plexus: anatomy, function, and clinical manifestations.

Published in:

Anatomy & Cell Biology, 2021, v. 54, n. 2, p. 137, doi. 10.5115/acb.20.308

By:

Razipour, Shadi E.;
Zarrintan, Sina;
Mathkour, Mansour;
Iwanaga, Joe;
Dumont, Aaron S.;
Shane Tubbs, R.

Publication type:

Article

Evaluating a schools' service for children with a facial disfigurement: the views of teaching and support staff.

Published in:

Support for Learning, 2005, v. 20, n. 1, p. 35, doi. 10.1111/j.0268-2141.2005.00358.x

By:

O'Dell, Lindsay;
Prior, Jess

Publication type:

Article

Corrigendum.

Published in:: 2018
Publication type:: Correction Notice

Three questionnaires to assess the perception of fixed orthodontic therapy before, during and after treatment: validity and reliability.

Published in:

European Journal of Orthodontics, 2017, v. 39, n. 4, p. 402, doi. 10.1093/ejo/cjw076

By:

Yassir, Yassir A.;
McIntyre, Grant T.;
Bearn, David R.

Publication type:

Article

Influence of premolar extractions on long-term adult facial aesthetics and apparent age.

Published in:

European Journal of Orthodontics, 2016, v. 38, n. 3, p. 272, doi. 10.1093/ejo/cjv039

By:

Janson, Guilherme;
Zingaretti Junqueira, Cintia Helena;
Marzullo Mendes, Lucas;
Gamba Garib, Daniela

Publication type:

Article

The nasomaxillary complex and the cranial base in artificial cranial deformation: relationships from a geometric morphometric study.

Published in:

European Journal of Orthodontics, 2015, v. 37, n. 4, p. 403, doi. 10.1093/ejo/cju066

By:

Ferros, Isabel;
Mora, Maria J.;
Obeso, Idoia F.;
Jimenez, Publio;
Martinez-Insua, Arturo

Publication type:

Article

Masticatory function in patients with dentofacial deformities before and after orthognathic treatment-a prospective, longitudinal, and controlled study.

Published in:

European Journal of Orthodontics, 2015, v. 37, n. 1, p. 67, doi. 10.1093/ejo/cju011

By:

Abrahamsson, Cecilia;
Henrikson, Thor;
Bondemark, Lars;
Ekberg, EwaCarin

Publication type:

Article

Facial shape and asymmetry in 5-year-old children with repaired unilateral cleft lip and/or palate: an exploratory study using laser scanning.

Published in:

European Journal of Orthodontics, 2014, v. 36, n. 5, p. 497, doi. 10.1093/ejo/cjs075

By:

Djordjevic, Jelena;
Lewis, Bethan M.;
Donaghy, Claire E.;
Zhurov, Alexei I.;
Knox, Jeremy;
Hunter, Lindsay;
Richmond, Stephen

Publication type:

Article