Works about FACIAL abnormalities

Results: 1522

Aggressive Juvenile Trabecular Ossifying Fibroma of the Mandible in a Child.

Published in:

Journal of Dentistry for Children, 2025, v. 92, p. 17

By:

Parekh, Nishreen M.;
Desai, Rajiv S.;
Bansal, Shivani P.;
Shirsat, Pankaj M.;
Prasad, Pooja S.

Publication type:

Article

Challenges with Conventional Dermal Filler Guidelines: Considering Multi-Axes Facial Rotation Asymmetry Patterns.

Published in:

Archives of Plastic Surgery, 2025, v. 52, n. 3, p. 202, doi. 10.1055/a-2545-1758

By:

Koppert, Erik;
Yi, Kyu-Ho

Publication type:

Article

Exome sequencing revealed a novel homozygous variant in TRMT61 A in a multiplex family with atypical Cornelia de Lange Syndrome from Rwanda.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02153-0

By:

Uwibambe, Esther;
Yalcouyé, Abdoulaye;
Aboagye, Elvis Twumasi;
Xhakaza, Lettilia;
Popel, Kalinka;
Dukuze, Norbert;
Bharadwaj, Thashi;
de Kock, Carmen;
Schrauwen, Isabelle;
Leal, Suzanne M.;
Mutesa, Leon;
Wonkam, Ambroise

Publication type:

Article

Perioperative Challenges in a Multi Anomalous Child with Corrected Congenital Cyanotic Heart Disease Posted for Noncardiac Surgery – What We Need to Know?

Published in:

2025

By:

Choudhary, Ripon;
Sharma, Ridhima;
Kewlani, Anu;
Kutum, Chayanika

Publication type:

Case Study

Solitary median maxillary central incisor syndrome caused by 22q11.2 microdeletion.

Published in:

Clinical Pediatric Endocrinology, 2025, v. 34, n. 1, p. 54, doi. 10.1297/cpe.2024-0024

By:

Hirohito Shima;
Akinobu Miura;
Sayaka Kawashima;
Ikumi Umeki;
Chisumi Sogi;
Dai Suzuki;
Yusuke Takezawa;
Ryo Sato;
Natsuko Arai-Ichinoi;
Miki Kamimura;
Ikuma Fujiwara;
Mika Adachi;
Aya Yamada;
Hiroshi Kawame;
Atsuo Kikuchi;
Junko Kanno

Publication type:

Article

Towards a Case Definition for Devil Facial Tumour Disease: What Is It?

Published in:

EcoHealth, 2007, v. 4, n. 3, p. 346, doi. 10.1007/s10393-007-0126-0

By:

Pyecroft, Stephen;
Pearse, Anne-Maree;
Loh, Richmond;
Swift, Kate;
Belov, Kathy;
Fox, Nolan;
Noonan, Erin;
Hayes, Dane;
Hyatt, Alex;
Wang, Lingfa;
Boyle, David;
Church, Jeff;
Middleton, Debra;
Moore, Robert

Publication type:

Article

Dysmorphic child born after maternal diclofenac therapy.

Published in:

2011

By:

Zaki, Syed Ahmed;
Nilofer, Angadi Rajasab;
Shanbag, Preeti

Publication type:

Letter

Perioperative complications in children with Apert syndrome: a review of 509 anesthetics.

Published in:

Pediatric Anesthesia, 2011, v. 21, n. 1, p. 72, doi. 10.1111/j.1460-9592.2010.03457.x

By:

Barnett, Sarah;
Moloney, Claire;
Bingham, Robert

Publication type:

Article

Stuve Wiedemann syndrome and related syndromes: case report and possible anesthetic complications.

Published in:

Pediatric Anesthesia, 2009, v. 19, n. 3, p. 212, doi. 10.1111/j.1460-9592.2008.02891.x

By:

Bonthuis, Dominique;
Morava, Eva;
Booij, Leo H. D. J.;
Driessen, Jacques J.

Publication type:

Article

Awake tracheal intubation through the laryngeal mask in neonates with upper airway obstruction.

Published in:

Pediatric Anesthesia, 2008, v. 18, n. 1, p. 77, doi. 10.1111/j.1460-9592.2007.02354.x

By:

ASAI, TAKASHI;
NAGATA, ATSUSHI;
SHINGU, KOH

Publication type:

Article

Perioperative care of a patient with Beare–Stevenson syndrome.

Published in:

Pediatric Anesthesia, 2005, v. 15, n. 12, p. 1131, doi. 10.1111/j.1460-9592.2005.01585.x

By:

Upmeyer, Sara;
Bothwell, Marcella;
Tobias, Joseph D.

Publication type:

Article

Submental intubation for cancrum oris: a case report.

Published in:

Pediatric Anesthesia, 2005, v. 15, n. 11, p. 1009, doi. 10.1111/j.1460-9592.2005.01573.x

By:

Eipe, Naveen;
Neuhoefer, Eva-Sabine;
La Rosee, Gabriele;
Choudhrie, Rajiv;
Samman, Nabil;
Kreusch, Thomas

Publication type:

Article

Clinical and genetic characterization of patients with Pierre Robin sequence and spinal disease: review of the literature and novel terminal 10q deletion.

Published in:

Child's Nervous System, 2020, v. 36, n. 7, p. 1367, doi. 10.1007/s00381-020-04642-2

By:

Yekula, Anudeep;
Grant, Connor;
Gupta, Mihir;
Santiago-Dieppa, David R.;
Duddleston, Pate J.;
Gonda, David;
Levy, Michael

Publication type:

Article

Clinical and neuroradiological features of the 9p deletion syndrome.

Published in:

Child's Nervous System, 2016, v. 32, n. 2, p. 327, doi. 10.1007/s00381-015-2957-2

By:

Spazzapan, Peter;
Arnaud, Eric;
Baujat, Genevieve;
Nizon, Mathilde;
Malan, Valerie;
Brunelle, Francis;
Di Rocco, Federico

Publication type:

Article

Perception of children's faces with unilateral coronal synostosis-an eye-tracking investigation.

Published in:

Child's Nervous System, 2016, v. 32, n. 1, p. 135, doi. 10.1007/s00381-015-2798-z

By:

Linz, Christian;
Gerdes, Antje;
Meyer-Marcotty, Philipp;
Müller-Richter, Urs;
Böhm, Hartmut;
Ernestus, Ralf-Ingo;
Kübler, Alexander;
Alpers, Georg;
Schweitzer, Tilmann

Publication type:

Article

Mid-facial developmental defects caused by the widely used LacZ reporter gene when expressed in neural crest-derived cells.

Published in:

Transgenic Research, 2018, v. 27, n. 6, p. 551, doi. 10.1007/s11248-018-0091-0

By:

Wei, Xiaoxi;
Hu, Min;
Liu, Fei

Publication type:

Article

A case study of the utilization of clozapine treatment for treatment‐resistant schizophrenia associated with 22q11.2 deletion syndrome.

Published in:

2023

By:

Tsurue, Arisa;
Funahashi, Hideki;
Tsurue, Keiichi;
Kawano, Masahiko;
Ishida, Yasushi;
Hirano, Yoji

Publication type:

Case Study

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

Three-dimensional simulation and prediction of craniofacial surgery.

Published in:

Orthodontics & Craniofacial Research, 2003, v. 6, p. 102, doi. 10.1034/j.1600-0544.2003.242.x

By:

Meehan, M;
Teschner, M;
Girod, S

Publication type:

Article

Bilateral second branchial cleft fistulae coexisting with bilateral cleft lip and bilateral supra‐auricular fissures.

Published in:

2023

By:

Mariem, Rekik;
Khadija, Sellami;
Hanen, Hableni;
Massara, Baklouti;
Fathi, Karray;
Mohamed, Abdelmoula;
Hamida, Turki

Publication type:

Case Study

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

Campomelic dysplasia with dextrocardia and without sexreversal.

Published in:

Archive of Clinical Cases, 2017, v. 4, n. 1, p. 16, doi. 10.22551/2017.14.0401.10088

By:

Păvăloaia, Oana;
Resmeriţă, Irina;
Augustin, Iolanda;
Pânzaru, Monica;
Martiniuc, Violeta;
Păduraru, Luminiţa;
Gorduza, Eusebiu Vlad

Publication type:

Article

Pre and Postoperative Evaluation of Cutaneous Facial Flaps Using Infrared Thermographic Camera.

Published in:

Medicina Moderna, 2016, v. 23, n. 4, p. 297

By:

Raducu, Laura;
Cozma, Cristina Nicoleta;
Stroica, Laura Oana;
Neagu, Tiberiu Paul;
Jecan, Cristian Radu

Publication type:

Article

A Review: Obstetrical Emergencies in Small Ruminants.

Published in:

Alexandria Journal of Veterinary Sciences, 2019, v. 62, n. 1, p. 1, doi. 10.5455/ajvs.40558

By:

Khan Sharun;
Erdoğan, Güneş

Publication type:

Article

Geometric Evaluation of the Effect of Prosthetic Rehabilitation on Facial Asymmetry in Mandibulectomy Patients.

Published in:

2019

By:

Aswehlee, Amel M.;
Elbashti, Mahmoud E.;
Mariko Hattori;
Sumita, Yuka I.;
Hisashi Taniguchi;
Hattori, Mariko;
Taniguchi, Hisashi

Publication type:

journal article

Feasibility and Accuracy of Noncontact Three-Dimensional Digitizers for Geometric Facial Defects: An In Vitro Comparison.

Published in:

2018

By:

Aswehlee, Amel M.;
Elbashti, Mahmoud E.;
Mariko Hattori;
Sumita, Yuka I.;
Hisashi Taniguchi;
Hattori, Mariko;
Taniguchi, Hisashi

Publication type:

journal article

Geometric Evaluation of the Effect of Prosthetic Rehabilitation on Facial Asymmetry in Patients with Unilateral Maxillectomy.

Published in:

2018

By:

Aswehlee, Amel M.;
Mariko Hattori;
Elbashti, Mahmoud E.;
Sumita, Yuka I.;
Hisashi Taniguchi;
Hattori, Mariko;
Taniguchi, Hisashi

Publication type:

journal article

Implant-Retained Prosthetic Auricular Reconstruction in a Hemifacial Microsomia Individual: A Clinical Report.

Published in:

2017

By:

Chai Kiat Chng;
Gandedkar, Narayan H.;
Chng, Chai Kiat

Publication type:

journal article

Current State of Craniofacial Prosthetic Rehabilitation.

Published in:

International Journal of Prosthodontics, 2013, v. 26, n. 1, p. 57, doi. 10.11607/ijp.3220

By:

Ariani, Nina;
Visser, Anita;
van Oort, Robert P.;
Kusdhany, Lindawati;
Rahardjo, Tri Budi W.;
Krom, Bastiaan P.;
van der Mei, Henny C.;
Vissink, Arjan

Publication type:

Article

Quality of Life of Patients with Maxillofacial Defects After Treatment for Malignancy.

Published in:

International Journal of Prosthodontics, 2004, v. 17, n. 6, p. 657

By:

Hertrampf, Katrin;
Wenz, Hans J.;
Lehmann, Klaus M.;
Lorenz, Wilfried;
Koller, Michael

Publication type:

Article

Satisfactory Occlusal Relations for the Individual with a Craniofacial Anomaly.

Published in:

International Journal of Prosthodontics, 2003, v. 16, n. 7, p. 74

By:

Ross, Bruce

Publication type:

Article

Implant-Retained Prostheses for Facial Defects: An Up to 14-Year Follow-up Report on the Survival Rates of Implants at UCLA.

Published in:

International Journal of Prosthodontics, 2002, v. 15, n. 4, p. 325

By:

Roumanas, Eleni D.;
Freymiller, Earl G.;
Ting-Ling Chang;
Aghaloo, Tara;
Beumer, III, John

Publication type:

Article

Angular Asymmetries of the Human Face.

Published in:

International Journal of Prosthodontics, 2000, v. 13, n. 1, p. 41

By:

Namano, Sunphat;
Behrend, Donald A.;
Harcourt, John K.;
Wilson, Peter R.

Publication type:

Article

Fabrication of a Wax Ear by Rapid-Process Modeling Using Stereolithography.

Published in:

International Journal of Prosthodontics, 1999, v. 12, n. 1, p. 20

By:

Coward, Trevor J.;
Watson, Roger M.;
Wilkinson, Ian C.

Publication type:

Article

A CAD/CAM Technique for Fabricating Facial Prostheses: A Preliminary Report.

Published in:

International Journal of Prosthodontics, 1997, v. 10, n. 5, p. 467

By:

Lianq-Horng Chen;
Tsutsumi, Sadami;
Iizuka, Tadahiko

Publication type:

Article

Pulmonary alveolar proteinosis in the course of ICF type 2 syndrome.

Published in:

Acta Haematologica Polonica, 2023, v. 54, n. 5, p. 302, doi. 10.5603/ahp.95371

By:

Homa, Piotr;
Homa, Wojciech;
Janiuk, Urszula;
Cienkusz, Magdalena;
Bielecka, Teresa;
Krenke, Katarzyna;
Drabko, Katarzyna

Publication type:

Article

Clinical analysis of Gabriele‐de Vries caused by YY1 mutations and literature review.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2281

By:

Yang, Jingjing;
Yu, Chaonan;
Lyn, Nan;
Liu, Lei;
Li, Dongxiao;
Shang, Qing

Publication type:

Article

Clinical report and genetic analysis of a Chinese neonate with craniofacial microsomia caused by a splicing variant of the splicing factor 3b subunit 2 gene.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2268

By:

Zhang, Yongli;
Bi, Shaohua;
Dai, Liying;
Zhao, Yuwei;
Liu, Yu;
Shi, Zifeng

Publication type:

Article

Clinical heterogeneity of polish patients with KAT6B–related disorder.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2265

By:

Magdalena, Klaniewska;
Anna, Bolanowska‐Tyszko;
Anna, Latos‐Bielenska;
Aleksandra, Jezela‐Stanek;
Krzysztof, Szczaluba;
Malgorzata, Krajewska‐Walasek;
Elzbieta, Ciara;
Magdalena, Pelc;
Dorota, Jurkiewicz;
Piotr, Stawinski;
Agnieszka, Zubkiewicz‐Kucharska;
Małgorzata, Rydzanicz;
Rafal, Ploski;
Robert, Smigiel

Publication type:

Article

Diagnosis of Menke‐Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs.

Published in:

2023

By:

Cogan, Guillaume;
Bourgon, Nicolas;
Borghese, Roxana;
Julien, Emmanuel;
Jaquette, Aurélia;
Stos, Bertrand;
Achaiaa, Amale;
Chuon, Sophie;
Nitschke, Patrick;
Fourrage, Cécile;
Stirnemann, Julien;
Boutaud, Lucile;
Attie‐Bitach, Tania

Publication type:

Case Study

A novel variant in the QRICH1 gene was identified in a patient with severe developmental delay.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 8, p. 1, doi. 10.1002/mgg3.2227

By:

Wang, Dong;
Wu, Jin

Publication type:

Article

KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 4, p. 1, doi. 10.1002/mgg3.2127

By:

Choi, Yunha;
Choi, Jungmin;
Do, Hyosang;
Hwang, Soojin;
Seo, Go Hun;
Choi, In Hee;
Keum, Changwon;
Choi, Jin‐Ho;
Kang, Minji;
Kim, Gu‐Hwan;
Yoo, Han‐Wook;
Lee, Beom Hee

Publication type:

Article

A TNNI2 variant c.525G>T causes distal arthrogryposis in a Chinese family.

Published in:

2022

By:

Li, Yue;
Nong, Tianying;
Li, Yiqiang;
Li, Xia;
Li, Zhaohui;
Lv, Hui;
Xu, Hongwen;
Li, Jingchun;
Zhu, Mingwei

Publication type:

Case Study

Exome sequencing in a child with neurodevelopmental disorder and epilepsy: Variant analysis of the AHNAK2 gene.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 9, p. 1, doi. 10.1002/mgg3.2012

By:

Vinci, Mirella;
Kursula, Petri;
Greco, Donatella;
Elia, Maurizio;
Vetri, Luigi;
Schepis, Carmelo;
Chiavetta, Valeria;
Donadio, Serena;
Roccella, Michele;
Carotenuto, Marco;
Romano, Valentino;
Calì, Francesco

Publication type:

Article

A novel CEP57 variant associated with mosaic variegated aneuploidy syndrome in a Chinese female presenting with short stature, microcephaly, brachydactyly, and small teeth.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 6, p. 1, doi. 10.1002/mgg3.1951

By:

Feng, Biyun;
Chang, Guoying;
Zhang, Qianwen;
Li, Xin;
Tang, Yijun;
Gu, Shili;
Wang, Yirou;
Wang, Jian;
Wang, Xiumin

Publication type:

Article

De novo nonsense variant in ASXL3 in a Chinese girl causing Bainbridge–Ropers syndrome: A case report and review of literature.

Published in:

2022

By:

Wang, Qin;
Zhang, Jianming;
Jiang, Nan;
Xie, Jiansheng;
Yang, Jingxin;
Zhao, Xiaoshan

Publication type:

Case Study

Two novel presentations of KCNMA1‐related pathology––Expanding the clinical phenotype of a rare channelopathy.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 10, p. 1, doi. 10.1002/mgg3.1797

By:

Rodrigues Bento, Jotte;
Feben, Candice;
Kempers, Marlies;
van Rij, Maartje;
Woiski, Mallory;
Devriendt, Koenraad;
De Catte, Luc;
Baldewijns, Marcella;
Alaerts, Maaike;
Meester, Josephina;
Verstraeten, Aline;
Hendson, Willy;
Loeys, Bart

Publication type:

Article

Genetic analysis and prenatal diagnosis in a Chinese with growth retardation, abnormal liver function, and microcephaly.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 9, p. 1, doi. 10.1002/mgg3.1751

By:

Zhao, Peiwei;
Zhang, Lei;
Tan, Li;
Luo, Sukun;
Huang, Yufeng;
Peng, Hanming;
Cao, Jiangxia;
He, Xuelian

Publication type:

Article

Endocrinological features of a patient with 14q microdeletion and Dubowitz phenotype.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 5, p. 1, doi. 10.1002/mgg3.1644

By:

Amodeo, Maria Elisa;
Inzaghi, Elena;
Deodati, Annalisa;
Cianfarani, Stefano

Publication type:

Article

Whole‐exome sequencing identified a novel homozygous ASPH frameshift variant causing Traboulsi syndrome in a Chinese family.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 1, p. 1, doi. 10.1002/mgg3.1553

By:

Lei, Cheng;
Guo, Ting;
Ding, Shuizi;
Liao, Liyan;
Peng, Hong;
Tan, Zhiping;
Luo, Hong

Publication type:

Article