Works matching Facial abnormalities

Results: 2726

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

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

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: 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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Neurocranial morphology and growth in Williams syndrome.

Published in:

European Journal of Orthodontics, 2005, v. 27, n. 1, p. 32, doi. 10.1093/ejo/cjh065

By:

Axelsson, Stefan;
Kjæ, Inger;
Heiberg, Arvid;
Bjørnland, Tore;
Storhaug, Karl

Publication type:

Article

Deleterious Oral Habits and Management in Pediatric Patients: A Review.

Published in:

Indian Journal of Forensic Medicine & Toxicology, 2020, v. 14, n. 4, p. 9027, doi. 10.37506/ijfmt.v14i4.13145

By:

Shaghaf, Fatma

Publication type:

Article

Broadening the clinical spectrum of ALGS: an Egyptian cohort with five novel mutations in JAG1 gene.

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00241-9

By:

Khairat, Rabab;
El-Karaksy, Hanaa;
El-Bassyouni, Hala T.;
Saad, Ahmed K.;
Rabie, Eman;
Hamed, Khaled;
Yassin, Noha A.

Publication type:

Article

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

Oculo-facio-cardio-dental Syndrome: Report of a Rare Case.

Published in:

Angle Orthodontist, 2006, v. 76, n. 1, p. 184

By:

Türkkahraman, Hakan;
Sarıoğlu, Mehmet

Publication type:

Article

GOLDENHAR SYNDROME: A CASE REPORT.

Published in:

Era's Journal of Medical Research, 2018, v. 5, n. 2, p. 185, doi. 10.24041/ejmr2018.92

By:

Garg, Pragati;
Raj, Priyanka

Publication type:

Article

On Stigma & Health.

Published in:

Journal of Law, Medicine & Ethics, 2017, v. 45, n. 4, p. 475, doi. 10.1177/1073110517750581

By:

Goldberg, Daniel S.

Publication type:

Article

Mid‑trimester ultrasound findings in tricho‑hepato‑enteric syndrome: A case report.

Published in:

Biomedical Reports, 2025, v. 23, n. 1, p. N.PAG, doi. 10.3892/br.2025.1988

By:

Mainas, Alexandros;
Maina, Anna;
Ziogas, Nikolaos;
Papoulidis, Ioannis;
Athanasiadis, Apostolos

Publication type:

Article

Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.

Published in:

Journal of Human Genetics, 2008, v. 53, n. 9, p. 834, doi. 10.1007/s10038-008-0320-0

By:

Narumi, Yoko;
Aoki, Yoko;
Niihori, Tetsuya;
Sakurai, Masahiro;
Cavé, Hélène;
Verloes, Alain;
Nishio, Kimio;
Ohashi, Hirofumi;
Kurosawa, Kenji;
Okamoto, Nobuhiko;
Kawame, Hiroshi;
Mizuno, Seiji;
Kondoh, Tatsuro;
Addor, Marie-Claude;
Coeslier-Dieux, Anne;
Vincent-Delorme, Catherine;
Tabayashi, Koichi;
Aoki, Masashi;
Kobayashi, Tomoko;
Guliyeva, Afag

Publication type:

Article

Joint laxity, vitreoretinal degeneration, facial abnormalities, and generalized skeletal alterations: A new syndrome?

Published in:

Journal of Human Genetics, 1998, v. 43, n. 3, p. 191, doi. 10.1007/s100380050068

By:

Nishimura, G.;
Hasegawa, Tomonobu;
Sugii, Kyoko;
Tsuyama, Kaiichiro;
Matsuo, Nobutake

Publication type:

Article

Congenital Unilateral Hypoplasia of Depressor Anguli Oris.

Published in:

Case Reports in Pediatrics, 2012, p. 1, doi. 10.1155/2012/507248

By:

Ulualp, Seckin O.;
Deskin, Ronald

Publication type:

Article

Aarskog Syndrome - A Rare Case Report.

Published in:

Indian Journal of Public Health Research & Development, 2012, v. 3, n. 3, p. 225

By:

Suma, M. S.;
Pramod, G. V.;
Sujatha, G. P.;
Ashok, L.;
Kulkarni, M. L.

Publication type:

Article

Facial dysmorphism in Prader-Willi syndrome: a stereophotogrammetric analysis.

Published in:

Italian Journal of Anatomy & Embryology / Archivio Italiano di Anatomia Ed Embriologia, 2021, v. 125, p. 176

By:

Dolci, Claudia;
Sartorio, Alessandro;
Grugni, Graziano;
Tringali, Gabriella;
Rigamonti, Antonello E.;
Sforza, Chiarella

Publication type:

Article

The third case of Marbach‐Rustad progeroid syndrome caused by a de novo LEMD2 variant.

Published in:

Clinical Genetics, 2024, v. 105, n. 2, p. 209, doi. 10.1111/cge.14441

By:

Lu, Zhikun;
Zhang, Wen;
Mao, Xiaojian;
Li, Duan;
Chen, Xiaodan;
Liu, Li;
Lin, Yunting

Publication type:

Article

De novo 4q35.2 duplication containing FAT1 is associated with autism spectrum disorder.

Published in:

Clinical Genetics, 2022, v. 102, n. 5, p. 434, doi. 10.1111/cge.14194

By:

Hernando‐Davalillo, Cristina;
Martín, Adrián Alcalá San;
Borregan Prats, Mar;
Ortigoza‐Escobar, Juan Darío

Publication type:

Article

Systemic inflammatory syndrome in children with FARSA deficiency.

Published in:

Clinical Genetics, 2022, v. 101, n. 5/6, p. 552, doi. 10.1111/cge.14120

By:

Charbit-Henrion, Fabienne;
Goguyer-Deschaumes, Roman;
Borensztajn, Keren;
Mirande, Marc;
Berthelet, Jérémy;
Rodrigues-Lima, Fernando;
Khiat, Anis;
Frémond, Marie-Louise;
Bader-Meunier, Brigitte;
Rodari, Marco M.;
Seabra, Luis;
Rice, Gillian I.;
Legendre, Marie;
Drummond, David;
Berteloot, Laureline;
Roux, Charles-Joris;
Boddaert, Nathalie;
Drabent, Philippe;
Molina, Thierry Jo;
Lacaille, Florence

Publication type:

Article

PPP1R21 homozygous null variants associated with developmental delay, muscle weakness, distinctive facial features, and brain abnormalities.

Published in:

Clinical Genetics, 2018, v. 94, n. 3/4, p. 351, doi. 10.1111/cge.13387

By:

Suleiman, J.;
Al Hashem, A. M.;
Tabarki, B.;
Al‐Thihli, K.;
Bi, W.;
El‐Hattab, A. W.

Publication type:

Article

Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome).

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1488, doi. 10.1038/ejhg.2015.13

By:

Kagami, Masayo;
Kurosawa, Kenji;
Miyazaki, Osamu;
Ishino, Fumitoshi;
Matsuoka, Kentaro;
Ogata, Tsutomu

Publication type:

Article