Search Results - "Craniofacial abnormalities"

Robinow syndrome DVL1 variants disrupt morphogenesis and appendage formation in a Drosophila disease model.

Authors: Akarsu G MacCharles KR Wong KKL et al.

Source: Developmental dynamics : an official publication of the American Association of Anatomists [Dev Dyn] 2026 Jul; Vol. 255 (7), pp. 646-670. Date of Electronic Publication: 2025 Jul 02.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 9201927 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0177 (Electronic) Linking ISSN: 10588388 NLM ISO Abbreviation: Dev Dyn Subsets: MEDLINE

A Rare Cause of Proportional Short Stature and Puberty Precocity: Floating-Harbor Syndrome

Authors: Çetinkaya D Büyükyılmaz G Kılıç E

Source: Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2026 May 22; Vol. 18 (Suppl 1), pp. 20-24. Date of Electronic Publication: 2024 Sep 23.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Galenos Yayınevi Country of Publication: Turkey NLM ID: 101519456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1308-5735 (Electronic) NLM ISO Abbreviation: J Clin Res Pediatr Endocrinol Subsets: MEDLINE

Patient-derived AMOTL1 mutations lead to defective cell migration and tissue development.

Authors: Luo J Jin R Geng F et al.

Source: Bioscience reports [Biosci Rep] 2026 May 20; Vol. 46 (5).

Publication Type: Journal Article

Journal Info: Publisher: Portland Press on behalf of the Biochemical Society Country of Publication: England NLM ID: 8102797 Publication Model: Print Cited Medium: Internet ISSN: 1573-4935 (Electronic) Linking ISSN: 01448463 NLM ISO Abbreviation: Biosci Rep Subsets: MEDLINE

Role of Nasopharyngeal Airway in Management of Craniofacial Syndrome-Associated Upper Airway Obstruction in Children.

Authors: Thambar S Wong MD Schilling S et al.

Source: Orthodontics & craniofacial research [Orthod Craniofac Res] 2026 Jun; Vol. 29 (3), pp. 463-468. Date of Electronic Publication: 2024 Nov 06.

Publication Type: Journal Article

Journal Info: Publisher: Blackwell Munksgaard Country of Publication: England NLM ID: 101144387 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1601-6343 (Electronic) Linking ISSN: 16016335 NLM ISO Abbreviation: Orthod Craniofac Res Subsets: MEDLINE

Computational Mapping of Hedgehog Pathway Kinase Module Predicts Node-Specific Craniofacial Phenotypes.

Authors: Gramatikoff K Stoykov M Hörmann K et al.

Source: Genes [Genes (Basel)] 2026 Apr 08; Vol. 17 (4). Date of Electronic Publication: 2026 Apr 08.

Publication Type: Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

The First Case of Kleefstra Syndrome in a Rwandan Patient with Global Developmental Delay.

Authors: Dukuze N Hitayezu J Uyisenga JP et al.

Source: Genes [Genes (Basel)] 2026 Apr 07; Vol. 17 (4). Date of Electronic Publication: 2026 Apr 07.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Floating-Harbor Syndrome in a Korean Patient with Short Stature and Early Puberty: A Case Report

Authors: Jeon J Noh ES Hwang IT

Source: Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2026 Mar 13; Vol. 18 (1), pp. 176-180. Date of Electronic Publication: 2024 Jan 17.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Galenos Yayınevi Country of Publication: Turkey NLM ID: 101519456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1308-5735 (Electronic) NLM ISO Abbreviation: J Clin Res Pediatr Endocrinol Subsets: MEDLINE

A Novel ACTB Truncating Variant in a Neonate with ACTB-Related Neurodevelopmental Disorder with Features Overlapping Baraitser-Winter Cerebrofrontofacial Syndrome Diagnosed Using Whole Genome Sequencing: A Case Report.

Authors: Kim JH Park J Kim JK et al.

Source: Annals of clinical and laboratory science [Ann Clin Lab Sci] 2026 Jan; Vol. 56 (1), pp. 107-113.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Institute for Clinical Science Country of Publication: United States NLM ID: 0410247 Publication Model: Print Cited Medium: Internet ISSN: 1550-8080 (Electronic) Linking ISSN: 00917370 NLM ISO Abbreviation: Ann Clin Lab Sci Subsets: MEDLINE

Clinical features and management strategies concerning auditory canal duplication anomalies in children with congenital first branchial cleft anomalies.

Authors: Bi J Yu B Chen X et al.

Source: European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery [Eur Arch Otorhinolaryngol] 2025 Dec; Vol. 282 (12), pp. 6599-6607. Date of Electronic Publication: 2024 Jul 24.

Publication Type: Journal Article

Journal Info: Publisher: Springer International Country of Publication: Germany NLM ID: 9002937 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1434-4726 (Electronic) Linking ISSN: 09374477 NLM ISO Abbreviation: Eur Arch Otorhinolaryngol Subsets: MEDLINE

The Impact of Genetics on Craniofacial Dysplasias and Consequent Oral Malformations-Integrative Review.

Authors: Lopes Cardoso I Guimarães MI Touboul L et al.

Source: Genes [Genes (Basel)] 2026 Jan 27; Vol. 17 (2). Date of Electronic Publication: 2026 Jan 27.

Publication Type: Journal Article; Review

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Dysmorphic syndromes with overgrowth - systematic review, part 2: chromosomal and epigenetic disorders and disorders associated with dynamic mutations.

Transliterated Title: Zespoły dysmorfii z nadmiernym wzrostem – przegląd systematyczny, część 2: zaburzenia chromosomowe, epigenetyczne i związane z mutacją dynamiczną.

Authors: Gąsiorowska J Grundys A Gawlik L et al.

Source: Pediatric endocrinology, diabetes, and metabolism [Pediatr Endocrinol Diabetes Metab] 2026; Vol. 32 (1), pp. 43-49.

Publication Type: Journal Article; Systematic Review

Journal Info: Publisher: Termedia Country of Publication: Poland NLM ID: 101518750 Publication Model: Print Cited Medium: Internet ISSN: 2083-8441 (Electronic) Linking ISSN: 20838441 NLM ISO Abbreviation: Pediatr Endocrinol Diabetes Metab Subsets: MEDLINE

Rare Facial Clefts Demystified: Clarity in History, Diagnosis, and Surgical Management.

Authors: Tonello C Pellerin P Freitas RDS et al.

Source: Annals of plastic surgery [Ann Plast Surg] 2026 Jul 01; Vol. 97 (1S), pp. S114-S121. Date of Electronic Publication: 2026 Jun 11.

Publication Type: Journal Article; Review; Historical Article

Journal Info: Publisher: Little, Brown And Company Country of Publication: United States NLM ID: 7805336 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1536-3708 (Electronic) Linking ISSN: 01487043 NLM ISO Abbreviation: Ann Plast Surg Subsets: MEDLINE

Heterozygous Med13l mice recapitulate a developmental growth delay and craniofacial anomalies seen in MED13L syndrome.

Authors: Leinheiser AK Nguyen TT Henry KM et al.

Source: Developmental dynamics : an official publication of the American Association of Anatomists [Dev Dyn] 2026 Jul; Vol. 255 (7), pp. 724-735. Date of Electronic Publication: 2025 Sep 08.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 9201927 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0177 (Electronic) Linking ISSN: 10588388 NLM ISO Abbreviation: Dev Dyn Subsets: MEDLINE

Complex Craniofacial Challenges: A Case Series of Tessier Clefts 14, 10, 7, and 4.

Authors: Kalita K Kumar Gupta R Baruah P et al.

Source: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association [Cleft Palate Craniofac J] 2026 Jul; Vol. 63 (7), pp. 2225-2230. Date of Electronic Publication: 2025 Jun 23.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: SAGE Publications in Association with American Cleft Palate-Craniofacial Association Country of Publication: United States NLM ID: 9102566 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1545-1569 (Electronic) Linking ISSN: 10556656 NLM ISO Abbreviation: Cleft Palate Craniofac J Subsets: MEDLINE

Treatment of Work Type II Congenital First Branchial Cleft Anomalies: A Summary of 35 Cases.

Authors: Wang HC Yuan HW Zeng CQ et al.

Source: Ear, nose, & throat journal [Ear Nose Throat J] 2026 Jul; Vol. 105 (7), pp. 434-439. Date of Electronic Publication: 2023 Dec 12.

Publication Type: Journal Article

Journal Info: Publisher: SAGE Publications Country of Publication: United States NLM ID: 7701817 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1942-7522 (Electronic) Linking ISSN: 01455613 NLM ISO Abbreviation: Ear Nose Throat J Subsets: MEDLINE

Life expectancy and causes of death in classical laminopathic progeroid syndromes: systematic review with individual-patient data synthesis.

Authors: López-Vila C García-Cordeiro M Estévez-Martínez L et al.

Source: Aging [Aging (Albany NY)] 2026 Jun 18; Vol. 18 (1), pp. 695-718. Date of Electronic Publication: 2026 Jun 18.

Publication Type: Journal Article; Systematic Review

Journal Info: Publisher: Impact Journals, LLC Country of Publication: United States NLM ID: 101508617 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1945-4589 (Electronic) Linking ISSN: 19454589 NLM ISO Abbreviation: Aging (Albany NY) Subsets: MEDLINE

Craniometaphyseal dysplasia: a rare cause of persistent macrocephaly.

Authors: Parente Rodrigues M Costa E Cunha J

Source: BMJ case reports [BMJ Case Rep] 2026 Jun 16; Vol. 19 (6). Date of Electronic Publication: 2026 Jun 16.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 101526291 Publication Model: Electronic Cited Medium: Internet ISSN: 1757-790X (Electronic) Linking ISSN: 1757790X NLM ISO Abbreviation: BMJ Case Rep Subsets: MEDLINE

Identification and functional characterization of a novel pathogenic DVL1 gene variant in Robinow syndrome.

Authors: Kumar A Rai S Dey C et al.

Source: Molecular genetics and genomics : MGG [Mol Genet Genomics] 2026 Jun 16; Vol. 301 (1). Date of Electronic Publication: 2026 Jun 16.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 101093320 Publication Model: Electronic Cited Medium: Internet ISSN: 1617-4623 (Electronic) Linking ISSN: 16174623 NLM ISO Abbreviation: Mol Genet Genomics Subsets: MEDLINE

The abnormal C-terminus caused by DVL1 variants impacts Robinow syndrome phenotypes.

Authors: Tophkhane SS Akarsu G Gignac SJ et al.

Source: Human molecular genetics [Hum Mol Genet] 2026 Jun 06; Vol. 35 (14).

Publication Type: Journal Article

Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

[Pediatric Thyroiditis Secondary to Fourth Branchial Arch Anomaly: A Case Series].

Authors: Hadar A Picard E Joseph L et al.

Source: Harefuah [Harefuah] 2026 Jun; Vol. 165 (6), pp. 373-378.

Publication Type: English Abstract; Journal Article

Journal Info: Publisher: Israel Medical Association Country of Publication: Israel NLM ID: 0034351 Publication Model: Print Cited Medium: Print ISSN: 0017-7768 (Print) Linking ISSN: 00177768 NLM ISO Abbreviation: Harefuah Subsets: MEDLINE