Works matching Facial abnormalities

Results: 2695

HDlive in the Assessment of Fetal Facial Abnormalities.

Published in:

Donald School Journal of Ultrasound in Obstetrics & Gynecology, 2014, v. 8, n. 4, p. 344

By:

Toshiyuki Hata;
Uiko Hanaoka;
Rina Uematsu;
Genzo Marumo;
Hirokazu Tanaka

Publication type:

Article

Fetal Facial Abnormalities: From 2D Sonography to HDlive and HDlive Silhouette Mode.

Published in:

Donald School Journal of Ultrasound in Obstetrics & Gynecology, 2016, v. 10, n. 3, p. 313, doi. 10.5005/jp-journals-10009-1478

By:

Sajapala, Suraphan;
Mostafa AboEllail, Mohamed Ahmed;
Kenji Kanenishi;
Toshiyuki Hata

Publication type:

Article

The impact of facial abnormalities and their spatial position on perception of cuteness and attractiveness of infant faces.

Published in:

PLoS ONE, 2017, v. 12, n. 7, p. 1, doi. 10.1371/journal.pone.0180499

By:

Lewis, Jennifer;
Roberson, Debi;
Foulsham, Tom

Publication type:

Article

P24.12: HDlive in the assessment of fetal facial abnormalities.

Published in:

Ultrasound in Obstetrics & Gynecology, 2014, v. 44, p. 328, doi. 10.1002/uog.14472

By:

Hanaoka, U.;
Hata, T.;
Uematsu, R.;
Marumo, G.;
Tanaka, H.

Publication type:

Article

Thresholds of Abnormality Perception in Facial Esthetics among Laypersons and Dental Professionals: Frontal Esthetics.

Published in:

International Journal of Dentistry, 2020, p. 1, doi. 10.1155/2020/8946063

By:

Alrbata, Raed H.;
Alfaqih, Ayham Kh.;
Almhaidat, Mohammad R.;
Al-Tarawneh, Ahmad M.

Publication type:

Article

Thresholds of Abnormality Perception in Facial Esthetics among Laypersons and Dental Professionals: Profile Esthetics.

Published in:

International Journal of Dentistry, 2020, p. 1, doi. 10.1155/2020/2068961

By:

Alrbata, Raed H.;
Alfaqih, Ayham Kh.;
Almhaidat, Mohammad R.;
Al-Tarawneh, Ahmad M.

Publication type:

Article

Facial dysmorphism and limb abnormalities of fetal valproate syndrome.

Published in:

QJM: An International Journal of Medicine, 2025, v. 118, n. 1, p. 45, doi. 10.1093/qjmed/hcae165

By:

Singanamalla, B;
Gunasekaran, P K;
Saini, A G

Publication type:

Article

An Instrumental Measure of Hand and Facial Movement Abnormalities in Patients With Schizophrenia.

Published in:

Frontiers in Psychiatry, 2022, v. 13, p. 1, doi. 10.3389/fpsyt.2022.803661

By:

Wang, Shu-Mei;
Ouyang, Wen-Chen;
Hsu, Hsiao-Man;
Hsu, Li-Ta

Publication type:

Article

ARTIFICIAL NEURAL NETWORKS TO DETECT FACIAL ABNORMALITIES THROUGH CEPHALOMETRIC RADIOGRAPHY USING BJORK ANALYSIS.

Published in:

ICTACT Journal on Soft Computing, 2021, v. 11, n. 4, p. 2391, doi. 10.21917/ijsc.2021.0341

By:

Anbazhagan, S.

Publication type:

Article

Two sisters with Bardet-Biedl syndrome: brain abnormalities and unusual facial findings.

Published in:

Turkish Journal of Pediatrics, 2011, v. 53, n. 4, p. 460

By:

Aksoy, Ayşe;
Karagüzell, Gülay;
Akbulut, Ulaş;
Türk, Adem

Publication type:

Article

Congenital cranio-facial abnormalities in paediatric population: a systematic review on temporomandibular disorders.

Published in:

Journal of Clinical Pediatric Dentistry, 2023, v. 47, n. 5, p. 12, doi. 10.22514/jocpd.2023.049

By:

Minervini, Giuseppe;
Marrapodi, Maria Maddalena;
Cervino, Gabriele;
Franco, Rocco;
Lanza, Alessandro;
Cicciù, Marco;
Di Francesco, Fabrizio

Publication type:

Article

Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome.

Published in:

European Journal of Pediatrics, 2014, v. 173, n. 9, p. 1253, doi. 10.1007/s00431-014-2368-5

By:

Dieks, Jana-Katharina;
Baumer, Alessandra;
Wilichowski, Ekkehard;
Rauch, Anita;
Sigler, Matthias

Publication type:

Article

Microdeletion 12p12.1 involving SRY-related HMG-box 5 gene with developmental delay and autistic behavior: A rare case report.

Published in:

Saudi Journal for Health Sciences, 2023, v. 12, n. 2, p. 157, doi. 10.4103/sjhs.sjhs_11_23

By:

Goyal, Manisha;
Gupta, Ashok;
Gupta, Rahul;
Faruq, Mohammed;
Shrivastava, Divya

Publication type:

Article

Local Corner and Motion Key Point Trajectory Extraction for Facial Forgery Identification.

Published in:

Security & Communication Networks, 2023, p. 1, doi. 10.1155/2023/1648912

By:

Liu, Qingtong;
Xue, Ziyu

Publication type:

Article

Anaesthetic Management in a Patient of Goldenhar Syndrome Posted for Drainage of Brain Abscess with External Ventricular Drain Insertion.

Published in:

Journal of Clinical & Diagnostic Research, 2022, v. 16, n. 7, p. 1, doi. 10.7860/JCDR/2022/56479.16578

By:

SHANKAR, SHILPA;
CHAKOLE, VIVEK;
SONKUSALE, MANISH;
DALAL, SHIVANI;
PATIL, BHAKTHI

Publication type:

Article

Identification and In Silico Analysis of a Novel Mutation of MAN2B1 Gene in Congenital Family with Alpha-Mannosidosis from Pakistan.

Published in:

Pakistan Journal of Zoology, 2023, v. 55, n. 1, p. 31, doi. 10.17582/journal.pjz/20220226160227

By:

Ullah, Muhammad Ikram

Publication type:

Article

A case of optic-nerve hypoplasia and anterior segment abnormality associated with facial cleft.

Published in:

International Medical Case Reports Journal, 2016, v. 9, p. 207, doi. 10.2147/IMCRJ.S99237

By:

Tomoko Miyake;
Shota Kojima;
Tetsuya Sugiyama;
Mari Ueki;
Jun Sugasawa;
Hidehiro Oku;
Kensuke Tajiri;
Yuka Shigemura;
Koichi Ueda;
Atsuko Harada;
Mami Yamasaki;
Takumi Yamanaka;
Hidetsuna Utsunomiya;
Tsunehiko Ikeda

Publication type:

Article

Prenatal sonographic findings in confirmed cases of Wolf-Hirschhorn syndrome.

Published in:

2022

By:

Simonini, Corinna;
Hoopmann, Markus;
Kagan, Karl Oliver;
Schröder, Torsten;
Gembruch, Ulrich;
Geipel, Annegret

Publication type:

journal article

New dominant syndrome of microcephaly, facial abnormalities, micromelia, and mental retardation.

Published in:

Journal of Human Genetics, 1998, v. 43, n. 4, p. 224, doi. 10.1007/s100380050077

By:

Tsukahara, M.;
Sugio, Yoshitsugu

Publication type:

Article

Development of Early-Stage Stroke Diagnosis System for the Elderly Neurogenic Bladder Prevention.

Published in:

International Neurourology Journal, 2022, v. 26, p. S76, doi. 10.5213/inj.2244030.015

By:

Eui-Sun Kim;
Ji-Min Heo;
Sung-Jong Eun;
Jun Young Lee

Publication type:

Article

VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features.

Published in:

Clinical Genetics, 2020, v. 97, n. 4, p. 644, doi. 10.1111/cge.13690

By:

Beetz, Christian;
Ameziane, Najim;
Kdissa, Ameni;
Karageorgou, Vasiliki;
Bauer, Peter;
Suleiman, Jehan;
Sutton, V. Reid;
El‐Hattab, Ayman W.

Publication type:

Article

Sam's Story: How AboutFace is Helping People with Facial Differences.

Published in:: Journal of the Canadian Dental Association, 2013, v. 79, n. 4, p. 1
Publication type:: Article

Patterns of facial and blink reflex abnormalities in type 2 diabetes mellitus patients with short disease duration: a clue to subclinical cranial neuropathy.

Published in:

Egyptian Rheumatology & Rehabilitation, 2022, v. 49, n. 1, p. 1, doi. 10.1186/s43166-022-00149-7

By:

Tawfik, Gihan Abd El Fattah;
Sultan, Hussein El Moghazy;
Younis, Gihan Abd El Lattif;
El Emairy, Wafaa Samir

Publication type:

Article

Congenital Vomer Agenesis: A Rare and Poorly Understood Condition Revealed by Cone Beam CT.

Published in:

2018

By:

Yan, David Jun;
Lenoir, Vincent;
Chatelain, Sibylle;
Stefanelli, Salvatore;
Becker, Minerva

Publication type:

Case Study

JAG1 loss‑of‑function mutations contributed to Alagille syndrome in two Chinese families.

Published in:

Molecular Medicine Reports, 2018, v. 18, n. 2, p. 2356, doi. 10.3892/mmr.2018.9217

By:

Zhang, Erge;
Xu, Yuejuan;
Yu, Yongguo;
Chen, Sun;
Yu, Yu;
Sun, Kun

Publication type:

Article

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

Alpha-mannosidosis.

Published in:

Orphanet Journal of Rare Diseases, 2008, v. 3, p. 1, doi. 10.1186/1750-1172-3-21

By:

Malm, Dag;
Nilssen, Øivind

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

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

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

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

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

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

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

Mutant COMP shapes growth and development of skull and facial structures in mice and humans.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1251

By:

Burger, Alexander;
Roosenboom, Jasmien;
Hossain, Mohammad;
Weinberg, Seth M.;
Hecht, Jacqueline T.;
Posey, Karen L.

Publication type:

Article

A deep learning framework to scale linear facial measurements to actual size using horizontal visible iris diameter: a study on an Iranian population.

Published in:

Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-40839-6

By:

Pirayesh, Zeynab;
Hassanzadeh-Samani, Sahel;
Farzan, Arash;
Rohban, Mohammad Hossein;
Ghorbanimehr, Mohammad Soroush;
Mohammad-Rahimi, Hossein;
Motamedian, Saeed Reza

Publication type:

Article

Prenatal sonographic diagnosis of dacryocystocele.

Published in:

1999

By:

Suma, V.;
Marini, A.;
Bellitti, F.;
Bucci, N.;
Dorov, D.

Publication type:

Case Study

Chromosome 20p Partial De Novo Duplication Identified in a Female Paediatric Patient with Characteristic Facial Dysmorphism and Behavioural Anomalies.

Published in:

Case Reports in Genetics, 2020, p. 1, doi. 10.1155/2020/7093409

By:

Khattak, Shahzaib;
Jan, Meryam;
Warsi, Sara;
Khattak, Sohail

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

Nocturnal lagophthalmos in children with urofacial syndrome (Ochoa): A novel sign.

Published in:

European Journal of Pediatrics, 2014, v. 173, n. 5, p. 661, doi. 10.1007/s00431-013-2172-7

By:

Mermerkaya, Murat;
Süer, Evren;
Öztürk, Erdem;
Gülpınar, Ömer;
Gökçe, Mehmet;
Yalçındağ, Fatime;
Soygür, Tarkan;
Burgu, Berk

Publication type:

Article

Ochoa syndrome: a spectrum of urofacial syndrome.

Published in:

2010

By:

Aydogdu, Ozgu;
Burgu, Berk;
Demirel, Fuat;
Soygur, Tarkan;
Ozcakar, Zeynep Birsin;
Yalcınkaya, Fatos;
Tekgul, Serdar;
Yalcinkaya, Fatos

Publication type:

journal article

Maturational Deficiencies of the Fetus and Newborn: Relationships to Drug Effects.

Published in:

Clinical Pediatrics, 1965, v. 4, n. 1, p. 3, doi. 10.1177/000992286500400102

By:

Willner, Milton M.

Publication type:

Article

Congenital Unilateral Hypoplasia of Depressor Angularis Oris Musclewith Asymmetric Crying Face in Newborn.

Published in:

Journal of Cardiovascular Disease Research (Journal of Cardiovascular Disease Research), 2025, v. 16, n. 2, p. 330

By:

Ganesh, V. Nagaraja;
Mathay, Lorna;
Bhattacharjee, Prasun

Publication type:

Article

Atypical corneal clouding in mucopolysaccharidoses.

Published in:

2023

By:

Stephen, Mary;
M., Loganathan;
S., Swathi;
B., Priyavadhana

Publication type:

Case Study

Paediatric genomic testing: Navigating medicare rebatable genomic testing.

Published in:

Journal of Paediatrics & Child Health, 2021, v. 57, n. 4, p. 477, doi. 10.1111/jpc.15382

By:

Sachdev, Rani;
Field, Mike;
Baynam, Gareth S;
Beilby, John;
Berarducci, Maria;
Berman, Yemima;
Boughtwood, Tiffany;
Cusack, Marie B;
Fitzgerald, Vanessa;
Fletcher, Jeffery;
Freckmann, Mary‐Louise;
Grainger, Natalie;
Kirk, Edwin;
Lundie, Ben;
Lunke, Sebastian;
McGregor, Lesley;
Mowat, David;
Parasivam, Gayathri;
Tyrell, Vanessa;
Wallis, Mathew

Publication type:

Article

A case with 18p deletion and dystonia and review of the literature.

Published in:

2015

By:

Hakan Tekeli;
Kendirli, Mustafa Tansel;
Şenol, Mehmet Güney;
Demir, Serkan;
Yaşar, Halit;
Toğrol, Rıfat Erdem;
Özdağ, Mehmet Fatih;
Tunca, Yusuf

Publication type:

Case Study

Novel TP53RK variants cause varied clinical features of Galloway-Mowat syndrome without nephrotic syndrome in three unrelated Chinese patients.

Published in:

Frontiers in Molecular Neuroscience, 2023, v. 16, p. 01, doi. 10.3389/fnmol.2023.1116949

By:

Jing Chen;
Gao-Bo Ye;
Jin-Rong Huang;
Min Peng;
Wei-Yue Gu;
Pin Xiong;
Hong-min Zhu

Publication type:

Article

Baraitser and Winter syndrome with growth hormone deficiency.

Published in:

Journal of Pediatric Neurosciences, 2014, v. 9, n. 3, p. 257, doi. 10.4103/1817-1745.147583

By:

Chentli, Farida;
Zellagui, Hadjer

Publication type:

Article

6q Terminal Deletion Syndrome Associated with a Distinctive EEG and Clinical Pattern: A Report of Five Cases.

Published in:

Epilepsia (Series 4), 2006, v. 47, n. 5, p. 830, doi. 10.1111/j.1528-1167.2006.00522.x

By:

Elia, Maurizio;
Striano, Pasquale;
Fichera, Marco;
Gaggero, Roberto;
Castiglia, Lucia;
Galesi, Ornella;
Malacarne, Michela;
Pierluigi, Mauro;
Amato, Carmelo;
Musumeci, Sebastiano A.;
Romano, Corrado;
Majore, Silvia;
Grammatico, Paola;
Zara, Federico;
Striano, Salvatore;
Faravelli, Francesca

Publication type:

Article