Syndrome

Hemihyperplasia syndromes

Adolescent / Genetic counseling / Humans / Child / Female / Male / Infant / Ehlers-Danlos Syndrome / Boolean Satisfiability / Syndrome / Extremities / Diagnostic Criteria / Child preschool / Male / Infant / Ehlers-Danlos Syndrome / Boolean Satisfiability / Syndrome / Extremities / Diagnostic Criteria / Child preschool

Nager syndrome (preaxial acrofacial dysostosis): a case report

Dentistry / Cleft Palate / Case Report / Humans / Male / Synostosis / Radius / Ulna / Zygoma / Syndrome / Child preschool / Synostosis / Radius / Ulna / Zygoma / Syndrome / Child preschool

Congenital Dopamine Beta-Hydroxylase Deficiency

Humans / Epinephrine / Copper / Female / Male / Norepinephrine / Lancet / Aged / Middle Aged / Adult / Syndrome / Norepinephrine / Lancet / Aged / Middle Aged / Adult / Syndrome

Cutis Verticis Gyrata-Mental Deficiency Syndrome: A Patient with Drug-Resistant Epilepsy and Polymicrogyria

Magnetic Resonance Imaging / Epilepsy / Intellectual Disability / Humans / Drug Resistance / Male / Epilepsia / Clinical Sciences / Association / Adult / Syndrome / Neurosciences / Occipital Lobe / Scalp / Male / Epilepsia / Clinical Sciences / Association / Adult / Syndrome / Neurosciences / Occipital Lobe / Scalp

Microcephaly, Lymphedema, Chorioretinal Dysplasia (MLCRD) Syndrome

Nursing / Humans / Microcephaly / Male / Infant / Pediatric Health Care / Lymphedema / Syndrome / Pediatric Health Care / Lymphedema / Syndrome

Glucose transporter type I deficiency syndrome: Epilepsy phenotypes and outcomes

Epilepsy / Treatment Outcome / Adolescent / Humans / Child / Female / Male / Young Adult / Infant / Phenotype / Epilepsia / Clinical Sciences / Middle Aged / Adult / Retrospective Studies / Syndrome / Neurosciences / Cohort Studies / Ketogenic diet / Child preschool / Female / Male / Young Adult / Infant / Phenotype / Epilepsia / Clinical Sciences / Middle Aged / Adult / Retrospective Studies / Syndrome / Neurosciences / Cohort Studies / Ketogenic diet / Child preschool

Glucose transporter type 1 deficiency syndrome (Glut1DS): methylxanthines potentiate GLUT1 haploinsufficiency in vitro

Endocrinology / Genetics / Cardiology / Hematology / Nephrology / Neurology / Oncology / Pulmonology / Rheumatology / Epidemiology / Immunology / Nutrition / Kinetics / Public Health / Adolescent / Allergy / Humans / Child / Caffeine / Mutation / Female / Male / Pediatric / Theophylline / Glucose Transport / Fetus / Erythrocytes / Phenobarbital / Syndrome / Case Control Studies / Neurology / Oncology / Pulmonology / Rheumatology / Epidemiology / Immunology / Nutrition / Kinetics / Public Health / Adolescent / Allergy / Humans / Child / Caffeine / Mutation / Female / Male / Pediatric / Theophylline / Glucose Transport / Fetus / Erythrocytes / Phenobarbital / Syndrome / Case Control Studies

Gilbert syndrome and glucose-6-phosphate dehydrogenase deficiency: A dose-dependent genetic interaction crucial to neonatal hyperbilirubinemia

Genetics / Polymorphism / Multidisciplinary / Israel / Humans / Mutation / Female / Male / Jews / Jaundice / Risk factors / Gene Dosage / Newborn Infant / Genetic Polymorphism / Risk Factors / Syndrome / Allele Frequency / Cohort Studies / Hyperbilirubinemia / Mutation / Female / Male / Jews / Jaundice / Risk factors / Gene Dosage / Newborn Infant / Genetic Polymorphism / Risk Factors / Syndrome / Allele Frequency / Cohort Studies / Hyperbilirubinemia

Síndrome aórtico agudo: Revisión de la literatura y actualización del tema

Humans / Ulcer / Prognosis / Hematoma / Syndrome / Acute Disease

Aromatase Deficiency, a Rare Syndrome: Case Report

Rare diseases / Humans / Female / Inborn errors of metabolism / Male / Male Infertility / Pedigree / Gynecomastia / Family Health / Estrogens / Adult / Syndrome / Estradiol / DNA mutational analysis / Male Infertility / Pedigree / Gynecomastia / Family Health / Estrogens / Adult / Syndrome / Estradiol / DNA mutational analysis

Diagnóstico tardío de un caso índice de síndrome paraganglioma/feocromocitoma asociado a la SDH

Humans / Mutation / Male / Pheochromocytoma / Aged / Succinate Dehydrogenase / Syndrome / Delayed Diagnosis / Paraganglioma / Succinate Dehydrogenase / Syndrome / Delayed Diagnosis / Paraganglioma

Dolor torácico de 48 horas de evolución en un varón de 41 años

Intellectual Disability / Electrocardiography / Humans / Male / Marfan syndrome / Adult / Pleural Effusion / Medicina Clinica / Thoracic Aortic Aneurysm / Syndrome / Chest Pain / Tachycardia / Adult / Pleural Effusion / Medicina Clinica / Thoracic Aortic Aneurysm / Syndrome / Chest Pain / Tachycardia

Hemifacial myohyperplasia: Description of a new syndrome

Genetics / Face / Adolescent / Gene expression / Humans / Child / Muscle / Female / American / Hyperplasia / Clinical Sciences / Facial Asymmetry / X ray Computed Tomography / Syndrome / Unilateral / Child preschool / Child / Muscle / Female / American / Hyperplasia / Clinical Sciences / Facial Asymmetry / X ray Computed Tomography / Syndrome / Unilateral / Child preschool

Síndrome de Mirizzi: una causa inusual de ictericia obstructiva

Gastroenterology / Inflammation / Humans / Female / Aged / Cholecystectomy / Syndrome / Cholelithiasis / Cholecystectomy / Syndrome / Cholelithiasis

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