The Triad of Thin Body Habitus, Postprandial Symptoms, and Postural Relief: Clinical Clues to Superior Mesenteric Artery Syndrome.

Missed Autoimmune Diabetes: Latent Autoimmune Diabetes in Adults in the Setting of Autoimmune Clustering.

Atypical presentation and association of medullary thyroid carcinoma: reports from a tertiary care center in Northwest India.

Characterisation of Type-1 Fibrillinopathies in a Sri Lankan Cohort: Genotype-Phenotype Correlations and Novel FBN1 Variants.

Think classical homocystinuria if the genetic test did not confirm Marfan syndrome: Late diagnosis and phenotypic variability in adult siblings with classical homocystinuria.

Color syndrome terminology for velvet ant females (Hymenoptera: Mutillidae and Myrmosidae).

Electrocardiogram Lead Placement Accuracy and Its Implications on Universal Screening in Athletes.

Tremor, sensory-motor polyneuropathy and cerebral gliosis in klinefelter's syndrome.

Rare variants in BMAL1 are associated with a neurodevelopmental syndrome.

A Target Crosshair Method for Fluoroscopic-Guided Greater Trochanteric Bursa Injections.

A 19q13 microdeletion syndrome presenting with punding, frangophilia, hypermetamorphosis, frontal lobe and vermal hypoplasia, with depression misdiagnosed as schizophrenia, treated with mirtazapine.

NR3C1 variants and glucocorticoid response in childhood nephrotic syndrome in North India.

Genotype-Phenotype Correlation Insights Through Molecular Modeling Analysis in a Patient with Loeys-Dietz Syndrome.

[Marfan syndrome and related disorders].

Whole Blood Multi-OMIC Analysis Is Effective in Clinical Interpretation of Splicing Aberrations in PLOD1 -Related Kyphoscoliotic Ehlers-Danlos Syndrome.

Pure mucosal neuroma syndrome, not MEN2B.

Hereditary Medullary Thyroid Cancer: Genotype-Phenotype Correlation.

DiGeorge syndrome presenting with marfanoid habitus.

Association of Obesity With Sedative Dosing, Sedative Response, and Clinical Outcomes in Mechanically Ventilated Critically Ill Children.

Medullary thyroid cancer in MEN2 pediatric/adolescent carriers of RET mutation: genotype/phenotype correlation and outcome in a retrospective series of 23 patients.

Multimodal surgical strategy for mixed refractory hypertonia in a patient with cerebral palsy: C1-2 puncture and pectoral pocket for baclofen pump implantation following lumbosacral ventral-dorsal rhizotomy. Illustrative case.

A Patient Case of Malan Syndrome Involving 19p13.2 Deletion of NFIX with Longitudinal Follow-Up and Future Prospectives.

The Physics of Postless Hip Arthroscopy.

Spine deformity surgery in patients with Beals syndrome can be effectively performed but does risk revision surgery.

Morning tiredness and insomnia symptoms are associated with increased blood pressure in midlife women.

Biallelic and monoallelic variants in EFEMP1 can cause a severe and distinct subtype of heritable connective tissue disorder.

Nutritional Aspects of Spina Bifida Care: Optimizing Medical Management and Surgical Healing.

Use of cardiopulmonary exercise testing to identify mechanisms of exertional symptoms in children with long COVID.

Defining Surgical Difficulty During Open Right Lobe Donor Hepatectomy and its Prediction Using Preoperative Donor Computed Tomography Morphometry.

Evaluation and Surgical Management of Multiple Endocrine Neoplasias.

Snyder-Robinson syndrome presenting with learning disability, epilepsy, and osteoporosis: a novel SMS gene variant.

Oral Manifestations of Multiple Endocrine Neoplasia 2B Syndrome: A Rare Case Report.

NON-TRAUMATIC ECTOPIA LENTIS IN A PAEDIATRIC OPHTHALMOLOGY PRACTICE, IBADAN, NIGERIA.

A case report of multiple endocrine neoplasia type 2B.

Investigations of an individual with a Marfanoid habitus, mild intellectual disability, and severe social anxiety identifies PCDHGA5 as a candidate neurodevelopmental disorder gene.

Bullous striae distensae in a nephrotic syndrome patient: First case report from the Middle East of a rare presentation and review of the literature.

Impaired polyamine metabolism causes behavioral and neuroanatomical defects in a mouse model of Snyder-Robinson syndrome.

Novel UBE3B mutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous population.

Novel variant of FBN2 in a patient with congenital contractual arachnodactyly.

Uniparental Disomy as a Mechanism for Combined Oxidative Phosphorylation Deficiency Associated with MRPS34 Gene.

Marfanoid to Mortality: A Case Report on Sudden Cardiac Death Due to Aortic Dissection in a Young Male With Marfanoid Habitus.

A 4-Year-Old Boy with an Accidentally Detected Mutation in the RET Proto-Oncogene and Mutation in the Gene Encoding the Ryanodine Receptor1 (RyR1)-Case Report.

Computed tomography measured epicardial adipose tissue and psoas muscle attenuation: new biomarkers to predict major adverse cardiac events and mortality in patients with heart disease and critically ill patients. Part II: Psoas muscle area and density.

Acute Type A Aortic Dissection Diagnosed by POCUS in a 29-year-old Man.

Meticulous and Early Understanding of Congenital Cranial Defects Can Save Lives.

Using Machine-Learning to Predict Sleep-Disordered Breathing Diagnosis From Medical Comorbidities and Craniofacial Features.

Well-Leg Compartment Syndrome Due to Hemilithotomy Positioning after Arthroscopic Reconstruction of the PCL.

Non-invasive coronary flow velocity reserve assessment predicts adverse outcome in women with unstable angina without obstructive coronary artery stenosis.

Obesity, obesities and gastrointestinal cancers.

Bilateral Anteriorly Displaced Microspherophakia in a Female Child With Marfanoid Habitus.

Bilateral inferior petrosal sinus sampling: Procedural data from a German single-center study.

Impact of inflammatory cytokine and adipokine gene variations in the development of HIV-associated lipodystrophy.

Familial 4p Interstitial Deletion Provides New Insights and Candidate Genes Underlying This Rare Condition.

Impaired polyamine metabolism causes behavioral and neuroanatomical defects in a novel mouse model of Snyder-Robinson Syndrome.

Unileaflet Mitral Valve in Patient With Marfanoid Habitus.

The relation of aortic dimensions and obesity in adults with Marfan or Loeys-Dietz syndrome.

[Analysis of a child with Marfan syndrome due to a novel variant of FBN1 gene].

Paranirvar mānis (dependent people)? Rethinking humanitarian dependency syndrome: a Bourdieusian perspective.

Targeted Panel Sequencing Identifies an Intronic c.5225-3C>G Variant of the FBN1 Gene Causing Sporadic Marfan Syndrome with Annuloaortic Ectasia.

Growth charts for Marfan syndrome in the Netherlands and analysis of genotype-phenotype relationships.

Possible marfanoid habitus of Cesare Alessandro Scaglia di Verrua evidenced in portraits of Sir Anthony van Dyck?

Review of the Pathologic Characteristics in Myhre Syndrome: Gain-of-Function Pathogenic Variants in SMAD4 cause a Multisystem Fibroproliferative Response.

Neurodevelopmental disorder with microcephaly, ataxia, and seizures syndrome: expansion of the clinical spectrum.

A pediatric case of TEK-Related malformations and marfanoid habitus: an incidental finding or a feature?

Unsupervised Learning Identifies Computed Tomographic Measurements as Primary Drivers of Progression, Exacerbation, and Mortality in Chronic Obstructive Pulmonary Disease.

From Wolf-Hirschhorn syndrome to NSD2 haploinsufficiency: a shifting paradigm through the description of a new case and a review of the literature.

Expanding the Clinical Phenotype of 19q Interstitial Deletions: A New Case with 19q13.32-q13.33 Deletion and Short Review of the Literature.

Acromegaly caused by a GHRH-producing pancreatic neuroendocrine tumor: a rare manifestation of MEN1 syndrome.

Gaisbock Syndrome: A Review of Contemporary Studies, Pathogenesis, Complications, and Possible Treatment.

Looking for the skeleton in the closet-rare genetic diagnoses in patients with diabetes and skeletal manifestations.

Periocular Manifestation of Obstructive Sleep Apnea as a Novel Perioperative Screening Tool.

How to Distinguish Marfan Syndrome from Marfanoid Habitus in a Physical Examination-Comparison of External Features in Patients with Marfan Syndrome and Marfanoid Habitus.

Polycystic ovary syndrome as a plausible evolutionary outcome of metabolic adaptation.

Antenatal Ultrasound Imaging for Analysis of Human Craniosynostosis.

Marfan Syndrome Caused by Disruption of the FBN1 Gene due to A Reciprocal Chromosome Translocation.

Anesthetic Concerns of Children With Skeletal Dysplasia.

Diagnosis and Management of Obesity Hypoventilation Syndrome during Labor.

The influence of obesity on incidence of complications in patients hospitalized with ovarian hyperstimulation syndrome.

Novel Hemizygous Missense Variant of Spermine Synthase (SMS) Gene Causes Snyder-Robinson Syndrome in a Four-Year-Old Boy.

Deciphering the Pathogenic Nature of Two de novo Sequence Variations in a Patient with Shprintzen-Goldberg Syndrome.

Dysgerminoma of the ovary in a patient with triple-X syndrome (47, XXX) and Marfanoid habitus features.

Rhegmatogenous retinal detachment with giant retinal tear in a child with Marfan's syndrome: a rare ocular emergency.

Eye Manifestations of Shprintzen-Goldberg Craniosynostosis Syndrome: A Case Report and Systematic Review.

DLG4-related synaptopathy: a new rare brain disorder.

Late diagnosis of metastatic pheochromocytoma in multiple endocrine neoplasia 2B with rapid clinical decline.

Childhood and Adolescent Obesity: A Review.

Multiple endocrine neoplasia type 2B: A report of a rare case.

Approach to the Virilizing Girl at Puberty.

Pitfalls and Artifacts of 123I-Ioflupane SPECT in Parkinsonian Syndromes: A Quality Improvement Teaching Tool.

Successful use of an automated proning system to achieve prone positioning in a patient with severe ARDS requiring veno-venous ECMO.

Multiple endocrine neoplasia-IIb with RET gene mutation p.M918T： A case report.

MEN2B syndrome - paediatric case report.

Digestive involvement in a severe form of Snyder-Robinson syndrome: Possible expansion of the phenotype.

Telerobotic ultrasound to provide obstetrical ultrasound services remotely during the COVID-19 pandemic.

Prolonged Circulation Time Is Associated With Mortality Among Older Men With Sleep-Disordered Breathing.

Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement.

Bardet Biedl syndrome: A rare genetic disorder.

Bilateral inguinal masses or hernias in a female teenager with delayed menarche: Think of Complete Androgen Insensitivity Syndrome (CAIS), a case report.

GRIA3 missense mutation is cause of an x-linked developmental and epileptic encephalopathy.

Co-existence of Marfan syndrome and systemic sclerosis: A case report and a hypothesis suggesting a common link.

Assessment of Brain Injury Using Portable, Low-Field Magnetic Resonance Imaging at the Bedside of Critically Ill Patients.

Prediction of mortality after evacuation of supratentorial intracerebral hemorrhage using NSQIP data.

Characterization of lung-to-finger circulation time in sleep study assessment: the Multi-Ethnic Study of Atherosclerosis.

Adolescent with osteomyelitis after intramuscular administration of a vaccine: A case report.

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.

A Case of Trisomy 13 Mosaicism Presenting with a Severe Aortic Root Dilatation and Marfanoid Habitus due to an Unpredictable Cytogenetic Mechanism.

Rare Cases of PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome in a Korean Family Identified by Next Generation Sequencing.

Cutaneous Mucinosis Associated with Beckwith-Wiedemann Syndrome.

Consultation Section: Glaucoma. Cataract, glaucoma, possible Marfan syndrome, and conception aspirations.

Homozygous deletion of exons 2-7 within TGFB3 gene in a child with severe Loeys-Dietz syndrome and Marfan-like features.

Recessive marfanoid syndrome with herniation associated with a homozygous mutation in Fibulin-3.

A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis.

Avascular necrosis less frequently found in systemic lupus erythematosus patients with the use of alternate day corticosteroid.

Bronchial Carcinoid Tumour as a Rare Cause of Cushing’s Syndrome in Children: A Case Report and Review of Literature.

Renpenning syndrome in an Indian patient.

Role of menopause and hormone replacement therapy in sleep-disordered breathing.

Relationship Between Intermittent Hypoxia and Type 2 Diabetes in Sleep Apnea Syndrome.

Different habitus but similar electrocardiogram: Cardiac repolarization parameters in children - Comparison of elite athletes to obese children.

Transposition of external jugular to proximal internal jugular vein for relief of venous thoracic outlet syndrome and maintenance of arteriovenous fistula access for chronic hemodialysis: A new approach.

Nephrolithiasis in the Obese Patient.

Systemic toxicity of topical corticosteroids.

Short- and intermediate-term clinical outcome comparison between laparoscopic and robotic-assisted median arcuate ligament release.

A de novo mutation in DHD domain of SKI causing spina bifida with no craniofacial malformation or intellectual disability.

Predictive Factors for Intraabdominal Hypertension after Incisional Hernia Repair.

Natural history, treatment, and long-term follow up of patients with multiple endocrine neoplasia type 2B: an international, multicentre, retrospective study.

Can Vestibular Stimulation be Used to Treat Obesity?: Vestibular stimulation targeting the otoliths could rebalance energy homeostasis to trigger a leaner body habitus and thus treat metabolic syndrome.

Fifty Years After the First Description, MEN 2B Syndrome Diagnosis Is Still Late: Descriptions of Two Recent Cases.

Should we titrate peep based on end-expiratory transpulmonary pressure?-yes.

Differences in Cardiovascular Manifestation of Marfan Syndrome Between Children and Adults.

The first pediatric case of glucagon receptor defect due to biallelic mutations in GCGR is identified by newborn screening of elevated arginine.

Snyder-Robinson syndrome.

Intermittent superior mesenteric artery syndrome in a patient with multiple sclerosis.

The Reality of Multiple Endocrine Neoplasia Type 2B Diagnosis: Awareness of Unique Physical Appearance Is Important.

Small bowel adenocarcinoma in a patient with Lynch syndrome.

Valsalva-triggered pseudotumor cerebri syndrome: Case series and pathogenetic implications.

Sleep-disordered breathing and electrocardiographic QRS-T angle: The MESA study.

Update on multiple endocrine neoplasia Type 1 and 2.

Phenotypes of sleep-disordered breathing symptoms to two years of age based on age of onset and duration of symptoms.

[Left ventricular systolic dysfunction in young subjects with marfanoid habitus].

Expanding the molecular basis and phenotypic spectrum of ZDHHC9-associated X-linked intellectual disability.

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.

Laparoscopic Roux-en-Y gastric bypass in a patient with situs inversus totalis: Case report, technical tips and review of the literature.

Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features.

Marfan syndrome with pneumothorax: case report and review of literatures.

Superior Mesenteric Artery Syndrome after Kyphosis Correction - A Case Report.

Impact of Opioid Therapy on Sleep and Respiratory Patterns in Adults With Advanced Cancer Receiving Palliative Care.

The Microbiome That Shapes Us: Can It Cause Obesity?

A case of congenital lipomatous overgrowth, vascular malformations, epidermal nevi, spinal/skeletal anomalies and/or scoliosis syndrome with lipoatrophy as an important clinical manifestation.

Marfanoid habitus is a nonspecific feature of Perrault syndrome.

Modified surgical approach to hypoglossal nerve stimulator implantation in the pediatric population.

[30-year-old Patient with suspected Marfan Syndrome and Progressive Gait disturbance].

Linking Chronic Inflammation with Cardiovascular Disease: From Normal Aging to the Metabolic Syndrome.

Transient elastography as a screening tool for liver fibrosis in a large hemodialysis population.

Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type.

[Anthropomorphic features of patients with tuberculosis of the prostate].

Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.

Quantifying cutaneous adverse effects of systemic glucocorticoids in patients with rheumatoid arthritis: a cross-sectional cohort study.

A Rare de novo Interstitial Duplication at 4p15.2 in a Boy with Severe Congenital Heart Defects, Limb Anomalies, Hypogonadism, and Global Developmental Delay.

Lujan-Fryns Syndrome (LFS): A Unique Combination of Hypernasality, Marfanoid Body Habitus, and Neuropsychiatric Issues, Presenting as Acute-Onset Dysphagia.

Association of allergy/immunology and obstructive sleep apnea.

A case report of malignant obesity hypoventilation syndrome: A weighty problem in our ICUs.

[Adrenocortical oncocytoma presenting as Cushing´s syndrome in pregnancy with spontaneous postpartum uterine rupture].

Association between the dietary inflammatory index, waist-to-hip ratio and metabolic syndrome.

[Precision medicine-oriented safety assessment strategy for traditional Chinese medicines: disease-syndrome-based toxicology].

Sleep-disordered breathing and the menopausal transition among participants in the Sleep in Midlife Women Study.

Genetic Counseling, Professional Values, and Habitus: An Analysis of Disability Narratives in Textbooks.

Seizures as an Atypical Feature of Beal's Syndrome.

Use of the Biphasic (13)C-Sucrose/Glucose Breath Test to Assess Sucrose Maldigestion in Adults with Functional Bowel Disorders.

Neurology of Pregnancy: A Case-Oriented Review.

Model Programs to Address Obesity and Cardiometabolic Disease: Interventions for Suboptimal Nutrition and Sedentary Lifestyles.

A rare 47 XXY/46 XX mosaicism with clinical features of Klinefelter syndrome.

A Girl With Marfanoid Habitus and Distinctive Orolabial Lesions.

A unique case of growth hormone and human chorionic gonadotropin treatment in a 45,X male with Y: autosome translocation and literature review.

The dual roles of obesity in chronic kidney disease: a review of the current literature.

The Diversity of the Clinical Phenotypes in Patients With Fibrodysplasia Ossificans Progressiva.

Klinefelter syndrome with low gonadotropin levels.

SOS1 frameshift mutations cause pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B.

A rare case of lateral ovotesticular disorder with Klinefelter syndrome mosaicism 46, XX/47, XXY: An unusual presentation.

PRKAR1A-negative familial Cushing's syndrome: two case reports.

Myhre syndrome: Clinical features and restrictive cardiopulmonary complications.

A Rare Cause of Postoperative Abdominal Pain in a Spinal Fusion Patient.

Prevalence of generalised joint hypermobility in school-aged children from east-central European region.

Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?

Obesity related complications in surgery.

Hepatopulmonary Syndrome, Severe Cyanosis and Marfanoid Habitus.

Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes.

Total body irradiation in a patient with fragile X syndrome for acute lymphoblastic leukemia in preparation for stem cell transplantation: A case report and literature review.

Congenital Contractural Arachnodactyly without FBN1 or FBN2 Gene Mutations Complicated by Dilated Cardiomyopathy.

Congenital contractural arachnodactyly complicated with aortic dilatation and dissection: Case report and review of literature.

[The reproductive system in Prader-Willi syndrome].

Perrault syndrome - a rare case report.

[Multiple endocrine neoplasia type 2B].

Skeletal overgrowth syndrome caused by overexpression of C-type natriuretic peptide in a girl with balanced chromosomal translocation, t(1;2)(q41;q37.1).

Metabolic effects of androgen deprivation therapy.

Syndromic intellectual disability: a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant.

Estimating Weight in Children With Down Syndrome.