Disease: Dysostosis
- 'All I do is fight fires': Qualitative exploration of UK veterinarians' attitudes towards and experiences of pre-purchase consultations regarding brachycephalic dogs
- 64-Slice ECG-gated computed tomographic angiography for assessment of coronary arteries in brachycephalic dogs with pulmonary stenosis
- A case of 14q terminal deletion syndrome and hemifacial microsomia with review of terminal 14q deletion cases
- A novel case of Horner syndrome as the presenting sign of craniosynostosis
- A novel intronic TCOF1 pathogenic variant in a Chinese family with Treacher Collins syndrome
- A Novel Technique for Basilar Invagination Treatment in a Patient with Klippel-Feil Syndrome: A Clinical Example and Brief Literature Review
- A rare skeletal dysplasia in the etiology of severe scoliosis: Diaphanospondylodysostosis
- A retrospective observational cohort study on the postoperative respiratory complications and their risk factors in brachycephalic dogs undergoing BOAS surgery: 199 cases (2019-2021)
- A unique missense mutation in the RING domain impairs MID1 E3 ubiquitin ligase activity and localisation and is associated with uncommon Opitz Syndrome-like signs
- About a case of Fraser syndrome. Autopsy of a 37 weeks gestation fetus with multiple malformations
- Air Embolism-Induced Ischemic Stroke Following Orthognathic Surgery in a Patient With Goldenhar Syndrome
- An Ultra-Rare Mixed Phenotype with Combined AP-4 and ERF Mutations: The First Report in a Pediatric Patient and a Literature Review
- Analysis of genetic etiology in a patient with 1p36 deletion syndrome in conjunct with Snijders Blok-Campeau syndrome
- Antisense oligonucleotide therapeutic approach for Timothy syndrome
- Apert syndrome: neurosurgical outcomes and complications following posterior vault distraction osteogenesis
- Arterial blood gas measurements are different for brachycephalic and nonbrachycephalic dogs acclimatized to an altitude of 1,535 meters
- Artificial intelligence-based diagnosis in fetal pathology using external ear shapes
- Association of cranial base suture/synchondrosis fusion with severity of increased intracranial pressure in Crouzon syndrome
- Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2
- Changes in mandibular position during midface distraction in patients with syndromic craniosynostosis
- Children with Rare Nager Syndrome-Literature Review, Clinical and Physiotherapeutic Management
- Clinical and genetic characteristics of 21 children with Rubinstein-Taybi syndrome
- Cognitive Outcomes of Children With Sagittal Craniosynostosis Treated With Either Endoscopic or Open Calvarial Vault Surgery
- Concerns raised over Crufts brachycephalic winner
- Congenital pterygium with anterior segment dysgenesis: rare ocular manifestation in Rubinstein-Taybi syndrome
- Correlation of Cerebrospinal Fluid Total Protein and Serum Neutrophil-to-Lymphocyte Ratio with Clinical Outcomes of Guillain-Barre Syndrome Variants
- Craniosynostosis-associated variants in the IL-11R complex: new insights and questions
- CT features of abnormally whole-course wide eustachian tubes with microtia and atresia
- Dentofacial manifestations of a Paediatric patient with Goltz-Gorlin Syndrome
- Diagnosis of a Chinese pedigree affected with Treacher-Collins syndrome due to a novel variant of TCOF1 gene through whole exome sequencing
- Discussion: Comparison of Morphometric Outcomes following Open Posterior Expansion versus Endoscopic Strip Craniectomy for Sagittal Synostosis
- Discussion: Improved Facial and Skull-Base Symmetry following Osteotomy and Distraction of Unilateral Coronal Synostosis
- Early diagnostic clues of mucolipidosis type II: Significance of radiological findings
- Early prenatal diagnosis of spondylocostal dysostosis caused by a novel variant in MESP2
- Effects of chronotype on sleep, mood and cardiovascular circadian rhythms in rotating night shift medical workers
- Effects of simulated radioulnar synostosis on supination and pronation in cats. A cadaveric study
- Endoscopy-Assisted Craniosynostosis Surgery Versus Cranial Vault Remodeling for Non-Syndromic Craniosynostosis: Experience of a Single Center
- Epidemiology of congenital polydactyly and syndactyly in Hunan Province, China
- Evaluation of neurocognitive and social developments after craniosynostosis surgery
- Evaluation of risk factors for sleep-disordered breathing in dogs
- Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes
- Fraser syndrome with limb reduction defect: a rare and unique anatomic variation
- Further characterization of ARSK-related mucopolysaccharidosis type 10
- Generation of IGGi003-A induced pluripotent stem cell line from a patient with Sotos Syndrome carrying c.1633delA NSD1 variant in exon 5
- Genetic insights into the 'sandwich fusion' subtype of Klippel-Feil syndrome: novel FGFR2 mutations identified by 21 cases of whole-exome sequencing
- Geospatial and Socioeconomic Disparities Influencing the Management of Craniosynostosis
- Goldenhar syndrome with limbal neoformation, microtia and skeletal deformities: a case report and literature review
- Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies
- Homozygous <em>SMAD6</em> variants in two unrelated patients with craniosynostosis and radioulnar synostosis
- Identification of a novel LFNG variant in a Chinese fetus with spondylocostal dysostosis and a systematic review
- Impact of different cooling solutions on autonomic modulation in horses in a novice endurance ride
- Juvenile sialidosis: a rare case and review of the literature
- Klippel-Feil Syndrome Associated with Renal and Cardiac Anomalies in an Infant: A Case Report
- Loeys-Dietz syndrome and Goldenhar syndrome unveiled together
- Long-term results of minimally invasive strip craniectomy without helmet therapy for scaphocephaly - a single-centre experience
- Measurement of the Neutrophils Count and Oxidative Burst in Neutrophils of Patients with Sanjad Sakati Syndrome
- Mitral Valve Regurgitation in Klippel-Feil Syndrome With Related Thoracic Deformity
- Modeling skeletal dysplasia in Hurler syndrome using patient-derived bone marrow osteoprogenitor cells
- Molecular and physiological characterization of early semi-dwarf mutants of rice and localization of SNP variants in Sd1 locus generated through gamma radiation
- Molecular landscape of congenital vertebral malformations: recent discoveries and future directions
- Morphological and quantitative study of the inferior alveolar nerve canal in hemifacial microsomia
- Morquio B disease: a case report
- Nasal monobloc osteotomy for correction of late nasal and orbital asymmetry of unicoronal synostosis: A morphometric and outcomes study
- Neglected Sprengel's deformity in an 80-year-old female cadaver: a case report
- Non-invasive intracranial pressure analysis in craniosynostosis: an intriguing insight
- Oral bacteria may affect conjunctival microorganisms in brachycephalic dogs: a preliminary study
- p53 inhibitor or antioxidants reduce the severity of ethmoid plate deformities in zebrafish Type 3 Treacher Collins syndrome model
- Pantarsal coalition
- Periostin/Bone Morphogenetic Protein 1 axis axis regulates proliferation and osteogenic differentiation of sutured mesenchymal stem cells and affects coronal suture closure in the TWIST1<sup>+/-</sup> mouse model of craniosynostosis
- Plantar intermetatarsal perforator flap for first web skin-graftless syndactyly release: Anatomical study and clinical application
- Possible germline mosaicism in a pedigree with Treacher Collins syndrome: A case report and brief review
- Post-exercise heart rate recovery and its speed are associated with resting-reactivity cardiovagal modulation in healthy women
- Postmortem 7T MRI in Goltz-Gorlin Syndrome: Insights into fetal anomalies beyond conventional imaging techniques
- Prevalence of craniosynostosis in Finland, 1987-2010: A population-based study
- Prospective analysis of inflammatory markers and perioperative clinical data in children with craniosynostosis undergoing reconstructive surgery
- PUF60 loss-of-function with normal cognition should be considered in the differential diagnosis of Klippel-Feil syndrome
- Resection Arthroplasty Is a Valuable Strategy for Humeroradial Synostosis - A Case Report
- Skeletal expansion via craniofacial distraction osteogenesis technique in syndromic craniosynostosis: impact on ophthalmic parameters
- Soft-tissue, non-osteogenic distraction of the mandible and lower face in bilateral hemifacial microsomia-technical report
- Sp1-activated FGFR2 is involved in early-life exposure to nickel-induced craniosynostosis by regulating the ERK1/2 signaling pathway
- Syndactylized glabrous flaps for multiple finger palmar defects
- Syndactyly in a Newborn
- Targeting RNA opens therapeutic avenues for Timothy syndrome
- The Craniofacial Collaboration UK: Developmental Outcomes in 7- and 10-Year-Old Children With Metopic Synostosis
- The effect of breathing hypoxic gas (15% FIO<sub>2</sub> ) on physiological and behavioral outcomes during simulated driving in healthy subjects
- The mobility of the brachycephalic canine nostril in relation to the degree of nostril stenosis
- The most common congenital malformations in dogs: Literature review and practical guide
- The pathogenic mechanism of syndactyly type V identified in a Hoxd13Q50R knock-in mice
- The SARS-CoV-2 neutralizing antibody response to SD1 and its evasion by BA.2.86
- The transcription of the main gene associated with Treacher-Collins syndrome (TCOF1) is regulated by G-quadruplexes and cellular nucleic acid binding protein (CNBP)
- Toll-like receptor-2 induced inflammation causes local bone formation and activates canonical Wnt signaling
- Transcriptomic analysis reveals mitochondrial dysfunction in the pathogenesis of Nager syndrome in sf3b4-depleted zebrafish
- Transient binocular vision loss and pain insensitivity in Klippel-Feil syndrome: a case report
- Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome
- Utilizing Computer-Assisted Design and Virtual Surgical Planning for Correction of Unilateral Lambdoid Synostosis: Erratum
- Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis
- Vertebral and spinal malformations in small brachycephalic dog breeds: Current knowledge and remaining questions
- Weyers Acrofacial Dysostosis: A Case Report
- Whole genome sequencing identifies associations for nonsyndromic sagittal craniosynostosis with the intergenic region of BMP2 and noncoding RNA gene LINC01428
- Yoda1 opens the lymphatic path for craniosynostosis therapy