Works matching Craniofacial dysostosis

Results: 56

Midface Osteotomy Versus Distraction: The Effect on Speech, Nasality, and Velopharyngeal Function in Craniofacial Dysostosis.

Published in:

Cleft Palate Craniofacial Journal, 2008, v. 45, n. 4, p. 353, doi. 10.1597/07-042.1

By:

Pereira, Valerie;
Sell, Debbie;
Ponniah, Alan;
Evans, Rob;
Dunaway, David

Publication type:

Article

Severe Adult Hypersomnia - Sleep Apnea Syndrome in Craniofacial Dysostosis.

Published in:

Respiration, 1986, v. 50, n. 2, p. 147, doi. 10.1159/000194921

By:

Hess, Ch.W.;
Sauter, K.;
Bonfils, P.

Publication type:

Article

Mutation c.943G>T (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family.

Published in:

Molecular Syndromology, 2017, v. 8, n. 2, p. 93, doi. 10.1159/000455028

By:

Graul-Neumann, Luitgard M.;
Klopocki, Eva;
Adolphs, Nicolai;
Mensah, Martin A.;
Kress, Wolfram

Publication type:

Article

Long-term surgical cure of severe obstructive sleep apnea in an adult patient with craniofacial dysostosis (Crouzon's syndrome): a case report and literature review.

Published in:

Sleep & Breathing, 2011, v. 15, n. 2, p. 239, doi. 10.1007/s11325-010-0403-y

By:

Papagrigorakis, Manolis;
Vilos, Georgios A.;
Apostolidis, Charalabos;
Daskalopoulou, Euphemia;
Vlachogiannis, Manolis

Publication type:

Article

Disorders of ocular motility in craniofacial dysostosis.

Published in:

Journal of the Royal Society of Medicine, 1979, v. 72, n. 1, p. 21, doi. 10.1177/014107687907200108

By:

Greaves, Brian;
Walker, Jane;
Wybar, Kenneth

Publication type:

Article

Robot-assisted frontofacial correction in very young children with craniofacial dysostosis syndromes: a technical note and early functional outcome.

Published in:

Neurosurgical Focus, 2022, v. 52, n. 1, p. 1, doi. 10.3171/2021.10.FOCUS21515

By:

Udayakumaran, Suhas;
Krishnadas, Arjun;
Subash, Pramod

Publication type:

Article

Bilateral Encephaloceles and CSF Rhinorrhea after Facial Advancement in Craniofacial Dysostoses: Considerations for Repair.

Published in:

Otolaryngology-Head & Neck Surgery, 2014, v. 151, p. P248, doi. 10.1177/0194599814541629a350

By:

Panuganti, Bharat A.;
Leach, Matthew E.;
Antisdel, Jastin L.

Publication type:

Article

Crouzon syndrome - A rare case report.

Published in:

2017

By:

Kalanjiam, Vidhya;
Manoharan, G. V. Murali Gopika

Publication type:

Case Study

Tratamento ortodôntico-cirúrgico da Síndrome de Crouzon em paciente adulto: relato de caso clínico.

Published in:

Revista Clínica de Ortodontia Dental Press, 2018, v. 17, n. 2, p. 43, doi. 10.14436/1676-6849.17.2.043-054.art

By:

Pary, Augusto;
Pedra, Julio;
Neto, Cal

Publication type:

Article

Oral Health Status of Children with Syndromic Craniosynostosis.

Published in:

Oral Health & Preventive Dentistry, 2006, v. 4, n. 3, p. 173

By:

da Silva Dalben, Gisele;
Costa, Beatriz;
Gomide, Marcia Ribeiro

Publication type:

Article

Impaired wound healing following cranial vault reconstruction in a patient with an atypical phenotype of Marfan syndrome: A case report.

Published in:

2022

By:

Recker, Matthew J.;
Kronenwetter, Nathaniel;
Reynolds, Renée M.;
Sadler, Laurie S.;
Markiewicz, Michael R.

Publication type:

Case Study

Midface advancement in an adult patient with Crouzon syndrome: Modified LeFort III + LeFort I osteotomy accompanied by genioplasty and nasal dorsum augmentation.

Published in:

Dental Research Journal, 2022, v. 19, n. 4, p. 38, doi. 10.4103/1735-3327.344161

By:

Sh, Milad;
Tajmiri, Golnaz

Publication type:

Article

Craneosinostosis: revisión de la literatura.

Published in:

Acta Pediatrica de Mexico, 2022, v. 43, n. 3, p. 179, doi. 10.18233/apm43no3pp179-1922425

By:

Isabel Ocampo-Navia, Maria;
Alvarez-García, Daniela;
Gempeler, Andrés;
Velásquez, Fernando

Publication type:

Article

Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660).

Published in:

Journal of Bone & Mineral Research, 2017, v. 32, n. 4, p. 757, doi. 10.1002/jbmr.3034

By:

Whyte, Michael P;
McAlister, William H;
Fallon, Michael D;
Pierpont, Mary Ella;
Bijanki, Vinieth N;
Duan, Shenghui;
Otaify, Ghada A;
Sly, William S;
Mumm, Steven

Publication type:

Article

The role of double‐step advancement genioplasty and bilateral coronoidectomy in Nager Syndrome: A case report.

Published in:

Special Care in Dentistry, 2021, v. 41, n. 4, p. 512, doi. 10.1111/scd.12585

By:

Trindade, Paulo Alceu Kiemle;
Bueno, Patricia Martins;
Scomparin, Leandro;
Marzano‐Rodrigues, Maria Noel;
Trindade‐Suedam, Ivy Kiemle

Publication type:

Article

Oral manifestations of Crouzon Syndrome and their implications for dental care: case report.

Published in:

RGO: Revista Gaúcha de Odontologia, 2024, v. 72, p. 1, doi. 10.1590/1981-86372024003720240035

By:

Otoni Sena, Ana Paula;
de Castro Silva, Túlio;
Natividade Monteiro, Laura;
Sousa Pardini, Daniel;
Ferreira Silveira, Frank;
Quadros Tonelli, Stephanie

Publication type:

Article

Etiology and Pathogenesis of Hemifacial Microsomia.

Published in:

2018

By:

Chen, Q.;
Zhao, Y.;
Shen, G.;
Dai, J.

Publication type:

journal article

Apert syndrome: neurosurgical outcomes and complications following posterior vault distraction osteogenesis.

Published in:

Child's Nervous System, 2024, v. 40, n. 8, p. 2557, doi. 10.1007/s00381-024-06436-2

By:

Raposo-Amaral, Cassio Eduardo;
Vincenzi-Lemes, Marcela;
Medeiros, Mateus L.;
Raposo-Amaral, Cesar Augusto;
Ghizoni, Enrico

Publication type:

Article

Crouzon syndrome: posterior fossa volume studies in vestibular orientation.

Published in:

Child's Nervous System, 2021, v. 37, n. 10, p. 3105, doi. 10.1007/s00381-021-05186-9

By:

Pellerin, Philippe;
Vinchon, Matthieu;
Dhellemmes, Patrick;
Guerreschi, Pierre

Publication type:

Article

FREEMAN-SHELDON SYNDROME: A CASE REPORT.

Published in:

Iranian Journal of Child Neurology, 2009, v. 3, n. 3, p. 51

By:

Salehpour, Sh.;
Saket, S.

Publication type:

Article

INTERMITTENT EXOTROPIA COURSE IN FRONTONASAL DYSPLASIA AND SEVERE ORBITAL HYPERTELORISM: CASE REPORT.

Published in:

2016

By:

PAVLOVIĆ, Zorana B.;
STANKOVIĆ, Branislav R.

Publication type:

Case Study

Clinical and Molecular Heterogeneity of Silver-Russell Syndrome and Therapeutic Challenges: A Systematic Review.

Published in:

Current Pediatric Reviews, 2023, v. 19, n. 2, p. 157, doi. 10.2174/1573396318666220315142542

By:

Singh, Amit;
Pajni, Ketan;
Panigrahi, Inusha;
Khetarpal, Preeti

Publication type:

Article

Hearing and Otopathology in Crouzon Syndrome.

Published in:

Laryngoscope, 1999, v. 109, n. 9, p. 1372, doi. 10.1097/00005537-199909000-00002

By:

Orvidas, Laura J.;
Fabry, Lee B.;
Diacova, Svetlana;
McDonald, Thomas J.

Publication type:

Article

Advances in the Diagnosis of Craniosynostosis.

Published in:

European Paediatrics, 2010, v. 4, p. 66

By:

Taylor, Helena O. B.;
Ramakrishnan, Anand;
Forrest, Christopher R.

Publication type:

Article

Anesthetic Implications in a Child with Crouzon Syndrome.

Published in:

Anesthesia: Essays & Researches, 2017, v. 11, n. 1, p. 246, doi. 10.4103/0259-1162.200234

By:

Kumar, Ajeet;
Goel, Nitika;
Sinha, Chandni;
Singh, Abhishek

Publication type:

Article

Patient with Crouzon Syndrome Treated with Modified Le Fort III Osteotomy without Previous Orthodontic Treatment: Case Report and a Review of the Literature.

Published in:

Case Reports in Dentistry, 2020, p. 1, doi. 10.1155/2020/6248971

By:

Mohammadi, Farnoosh;
Javanmard, Afrooz;
Mojtahedi, Hamid

Publication type:

Article

Disease modeling of core pre-mRNA splicing factor haploinsufficiency.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 22, p. 3704, doi. 10.1093/hmg/ddz169

By:

Wood, Katherine A;
Rowlands, Charlie F;
Qureshi, Wasay Mohiuddin Shaikh;
Thomas, Huw B;
Buczek, Weronika A;
Briggs, Tracy A;
Hubbard, Simon J;
Hentges, Kathryn E;
Newman, William G;
O'Keefe, Raymond T

Publication type:

Article

Clinico-Radiological Perspectives of Pycnodysostosis - A Rare Case Series.

Published in:

2024

By:

Shanmugapriya, Sundar Raj;
Priya, Sairam Sugantha;
Priya, Mohankumar Saravana;
Selvam, Alagarsamy;
Anupriya, Mahalingam

Publication type:

Case Study

The Role of the U5 snRNP in Genetic Disorders and Cancer.

Published in:

Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.636620

By:

Wood, Katherine A.;
Eadsforth, Megan A.;
Newman, William G.;
O'Keefe, Raymond T.

Publication type:

Article

Spliceosomopathies: Diseases and mechanisms.

Published in:

Developmental Dynamics, 2020, v. 249, n. 9, p. 1038, doi. 10.1002/dvdy.214

By:

Griffin, Casey;
Saint‐Jeannet, Jean‐Pierre

Publication type:

Article

The Core Splicing Factors EFTUD2, SNRPB and TXNL4A Are Essential for Neural Crest and Craniofacial Development.

Published in:

Journal of Developmental Biology, 2022, v. 10, n. 3, p. N.PAG, doi. 10.3390/jdb10030029

By:

Park, Byung-Yong;
Tachi-Duprat, Melanie;
Ihewulezi, Chibuike;
Devotta, Arun;
Saint-Jeannet, Jean-Pierre

Publication type:

Article

Propranolol-induced gingival hyperplasia with Nager syndrome: A rare adverse drug reaction.

Published in:

Journal of Advanced Pharmaceutical Technology & Research, 2016, v. 7, n. 2, p. 64, doi. 10.4103/2231-4040.179749

By:

Raheel, Syed Ahamed;
Kujan, Omar Bashar;
Tarakji, Bassel;
Umar, Dilshad;
Ibrahim, Salah

Publication type:

Article

Imaging diagnosis of Crouzon syndrome in two cases confirmed on genetic studies - with a brief review.

Published in:

Indian Journal of Radiology & Imaging, 2019, v. 29, n. 4, p. 442, doi. 10.4103/ijri.IJRI_353_19

By:

Grover, Shabnam;
Bhayana, Aanchal;
Grover, Hemal;
Kapoor, Seema;
Chellani, Harish

Publication type:

Article

Neurološke manifestacije mukopolisaharidoza.

Published in:

Paediatria Croatica, 2020, v. 64, n. 4, p. 261, doi. 10.13112/pc.405

By:

Kero, Mijana

Publication type:

Article

Phenotypic and Molecular Heterogeneity in Mandibulofacial Dysostoses: A Case Series From India.

Published in:

Cleft Palate Craniofacial Journal, 2022, v. 59, n. 11, p. 1346, doi. 10.1177/10556656211050006

By:

Shenoy, Rathika D.;
Shetty, Vikram;
Dheedene, Annelies;
Menten, Björn;
Pandyanda Nanjappa, Dechamma;
Chakraborty, Gunimala;
Sips, Patrick;
de Paepe, Anne;
Callewaert, Bert;
Chakraborty, Anirban

Publication type:

Article

Treatment of infants with Syndromic Robin sequence with modified palatal plates: a minimally invasive treatment option.

Published in:

Head & Face Medicine, 2017, v. 13, p. 1, doi. 10.1186/s13005-017-0137-1

By:

Müller-Hagedorn, Silvia;
Buchenau, Wolfgang;
Arand, Jörg;
Bacher, Margit;
Poets, Christian F.

Publication type:

Article

Cephalometric analysis of hard and soft tissues in a 12-year-old syndromic child: A case report and update on dentofacial features of Crouzon syndrome.

Published in:

Journal of the Indian Society of Pedodontics & Preventive Dentistry, 2011, v. 29, n. 4, p. 315, doi. 10.4103/0970-4388.86378

By:

Nagaraju, K.;
Ranadheer, E.;
Suresh, P.;
Tarun, SP.

Publication type:

Article

Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2.

Published in:

2024

By:

Chen, Ying;
Yang, Run;
Chen, Xin;
Lin, Naier;
Li, Chenlong;
Fu, Yaoyao;
He, Aijuan;
Wang, Yimin;
Zhang, Tianyu;
Ma, Jing

Publication type:

Case Study

Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three‐generation family with Crouzon syndrome carrying a mutant c.799T>C FGFR2.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.843

By:

Lin, Meina;
Lu, Yongping;
Sui, Yu;
Zhao, Ning;
Jin, Ying;
Yi, Dongxu;
Jiang, Miao

Publication type:

Article

Intrafamilial Phenotypic Heterogeneity in a Chinese Family with a POLR1D p.Q31Rfs*10 Variant: A Challenge in Prenatal Diagnosis.

Published in:

Molecular Syndromology, 2022, v. 13, n. 4, p. 328, doi. 10.1159/000521173

By:

Yang, Yan-Dong;
Zhen, Li;
Li, Dong-Zhi

Publication type:

Article

Familial Aplasia of the Inferior Rectus Muscles.

Published in:

Journal of Pediatric Ophthalmology & Strabismus, 2005, v. 42, n. 4, p. 222, doi. 10.3928/01913913-20050701-04

By:

Pimenides, Dimitris;
Young, Soon;
Minty, Ian;
Spratt, Jonathan;
Tiffin, Peter A. C.

Publication type:

Article

Is Gorlin–Chaudhry–Moss syndrome associated with aortopathy?

Published in:

European Journal of Cardio-Thoracic Surgery, 2020, v. 58, n. 3, p. 654, doi. 10.1093/ejcts/ezaa108

By:

Legué, Juno;
François, Jules H M;
Rijswijk, Carla S P van;
Brakel, Thomas J van

Publication type:

Article

The Contributions of the Ribosome Biogenesis Protein Utp5/WDR43 to Craniofacial Development.

Published in:

2016

By:

Sondalle, S. B.;
Baserga, S. J.;
Yelick, P. C.

Publication type:

journal article

CROUZON SYNDROME: A CASE REPORT AND REVIEW OF LITERATURE.

Published in:

2006

By:

Kaur, Harroop;
Waraich, Harmeet Singh;
Sharma, Chander Mohan

Publication type:

Case Study

The airway in patients with craniofacial abnormalities.

Published in:

Pediatric Anesthesia, 2004, v. 14, n. 1, p. 53, doi. 10.1046/j.1460-9592.2003.01200.x

By:

Nargozian, Charles

Publication type:

Article

Craniofacial reconstruction as a treatment for elevated intracranial pressure.

Published in:

Child's Nervous System, 2012, v. 28, n. 3, p. 411, doi. 10.1007/s00381-011-1615-6

By:

Baird, Lissa;
Gonda, David;
Cohen, Steven;
Evers, Lars;
LeFloch, Nathalie;
Levy, Michael;
Meltzer, Hal

Publication type:

Article

Withdrawal of Continuous Positive Airway Pressure Therapy after Malar Advancement and Le Fort II Distraction in a Case of Apert Syndrome with Obstructive Sleep Apnea.

Published in:

Case Reports in Otolaryngology, 2015, v. 2015, p. 1, doi. 10.1155/2015/125023

By:

Onda, Nobuto;
Chiba, Shintaro;
Moriwaki, Hiroto;
Sawai, Rika;
Yoshigoe, Akira;
Watanabe, Subaru;
Ando, Yuji;
Uchida, Ryo;
Miyawaki, Takeshi;
Wada, Kota

Publication type:

Article

Clinical and radiographic presentation and preparation of the prototyping model for pre-surgical planning in Apert's syndrome.

Published in:

Dentomaxillofacial Radiology, 2006, v. 35, n. 2, p. 119, doi. 10.1259/dmfr/77056158

By:

Sannomiya, E. K.;
Reis, S. A. B.;
Asaumi, J.;
Silva, J. V. L.;
Barbara, A. S.;
Kishi, K.

Publication type:

Article

Human facial dysostoses.

Published in:

Clinical Genetics, 2013, v. 83, n. 6, p. 499, doi. 10.1111/cge.12123

By:

Wieczorek, D

Publication type:

Article

Mandibulofacial dysostosis, microtia, and limb anomalies in a newborn: a new form of acrofacial dysostosis syndrome? Zhang et al.

Published in:

Clinical Genetics, 2010, v. 78, n. 6, p. 570, doi. 10.1111/j.1399-0004.2010.01427.x

By:

Zhang, Y.;
Yong Dai;
Liu, Y.;
Ren, J.

Publication type:

Article