Congenital disorders

Delayed and prolonged umbilical stump bleeding in a Caucasian newborn as a presenting feature of factor XIII deficiency
David Boon Ngan Lim, Sarah Mangles, Aruna Goturu

BMJ Case Reports CP Oct 2022, 15 (10) e248743; DOI: 10.1136/bcr-2022-248743
Young adolescent with trisomy 13
Britt C E Kramer, Najma S Abdullahi, Loekie C ten Have, Annette P M van den Elzen

BMJ Case Reports CP Sep 2022, 15 (9) e246514; DOI: 10.1136/bcr-2021-246514
Aplasia cutis congenita
Colin Higgins, Alison Price, Stan Craig

BMJ Case Reports CP Sep 2022, 15 (9) e251533; DOI: 10.1136/bcr-2022-251533
Vanishing enteric duplication cyst presenting with melaena
Joshua J Cave, Ahsan Chaudhary, Alexia Tsigka, Yew-Wei Tan

BMJ Case Reports CP Aug 2022, 15 (8) e250012; DOI: 10.1136/bcr-2022-250012
Missed opportunities in the treatment of Turner syndrome: a case discussion and review of the guidelines
Sophie Howarth, Richard Quinton

BMJ Case Reports CP Aug 2022, 15 (8) e250870; DOI: 10.1136/bcr-2022-250870
Adrenal insufficiency due to high doses of maternal corticosteroid treatment in a premature baby
Florence Blondel, Charlotte Pierron, Emmanuel Scalais, Marianne Becker

BMJ Case Reports CP Aug 2022, 15 (8) e246961; DOI: 10.1136/bcr-2021-246961
Leadless pacemaker implantation in a patient with a double-chambered right ventricle
Tomoki Fukui, Miwa Miyoshi, Nobuyuki Ogasawara

BMJ Case Reports CP Jul 2022, 15 (7) e251496; DOI: 10.1136/bcr-2022-251496
SEC23B missense mutation-associated congenital dyserythropoietic anaemia type II in a child: a rare mimic of chronic haemolytic anaemia
Md Jasim Alam, Anusree Krishna Mandal, Subinay Mandal, Jadab Kumar Jana

BMJ Case Reports CP Jul 2022, 15 (7) e251092; DOI: 10.1136/bcr-2022-251092
Large Gartner cyst of the posterior vaginal fornix
Fortunato Genovese, Rosario Emanuele Carlo Distefano, Maria Piana, Marco Palumbo

BMJ Case Reports CP Jul 2022, 15 (7) e249458; DOI: 10.1136/bcr-2022-249458
Improvement of SLC29A3 spectrum disorder-related sensorineural hearing loss after initiation of IL-6 inhibitor
Lauren M Gunderman, Taher Valika, Hallie Carol, Amer Khojah

BMJ Case Reports CP Jun 2022, 15 (6) e249191; DOI: 10.1136/bcr-2022-249191

Pages

CLINICAL
- Anaesthesia (197)
- Cardiovascular medicine (921)
- Complementary medicine (6)
- Dentistry and oral medicine (200)
- Dermatology (487)
- Diagnostics
  - Clinical diagnostic tests (49)
  - Radiology (diagnostics) (145)
  - Surgical diagnostic tests (23)
- Diagnostics
- Drugs and medicines (1736)
- Ear, nose and throat/otolaryngology (411)
- Emergency medicine
  - Disaster response
  - Poisoning (49)
  - Resuscitation (57)
  - Trauma (158)
- Emergency medicine (456)
- Endocrinology
  - Adrenal disorders (117)
  - Calcium and bone (96)
  - Diabetes (125)
  - Drugs: endocrine system (25)
  - Lipid disorders (26)
  - Metabolic disorders (88)
  - Pituitary disorders (55)
  - Thyroid disease (118)
- Endocrinology (621)
- Evidence based practice
  - Changing physician behavior
  - Effectiveness of care
  - Guidelines
- Gastroenterology (882)
- Gastroenterology
  - Drugs: gastrointestinal system (44)
  - Endoscopy (163)
  - GI bleeding (99)
  - Infection (gastroenterology) (105)
  - Inflammatory bowel disease (72)
  - Liver disease (185)
  - Neurogastroenterology
  - Oesophagus (55)
  - Pancreas and biliary tract (97)
  - Pancreatitis (60)
  - Portal hypertension (16)
  - Small intestine (74)
  - Stomach and duodenum (85)
- General practice / family medicine (221)
- Genetics
  - Clinical genetics
  - Cytogenetics
  - Genetic screening / counselling (92)
  - Molecular genetics
- Genetics (278)
- Geriatric medicine
  - Elder abuse
  - End of life decisions (geriatric medicine) (2)
  - Long term care (18)
  - Psychogeriatrics
- Geriatric medicine (60)
- Haematology (incl blood transfusion) (506)
- HIV/AIDS (77)
- Immunology (including allergy) (54)
- Infectious diseases (1252)
- Intensive care
  - Adult intensive care (296)
  - Mechanical ventilation (19)
  - Neonatal intensive care (87)
  - Paediatric intensive care (68)
- Intensive care (538)
- Neurology
  - Brain stem / cerebellum (84)
  - Cerebral palsy (6)
  - Clinical neurophysiology (37)
  - Coma and raised intracranial pressure (29)
  - Cranial nerves (105)
  - Dementia (7)
  - Drugs: CNS (not psychiatric) (31)
  - Epilepsy and seizures (115)
  - Headache (including migraine) (9)
  - Hydrocephalus (21)
  - Infection (neurology) (163)
  - Motor neurone disease (14)
  - Movement disorders (other than Parkinsons) (63)
  - Multiple sclerosis (19)
  - Muscle disease (40)
  - Neuroimaging (391)
  - Neurological injury (71)
  - Neuromuscular disease (76)
  - Neurooncology (114)
  - Neuroophthalmology (8)
  - Pain (neurology) (47)
  - Parkinson's disease (6)
  - Peripheral nerve disease (84)
  - Sleep disorders (neurology) (8)
  - Spinal cord (104)
  - Stroke (233)
  - Trauma CNS / PNS (40)
  - Variant Creutzfeld-Jakob Disease (2)
- Neurology (1523)
- Nursing (36)
- Nutrition and metabolism
  - Childhood nutrition (5)
  - Diet (21)
  - Malnutrition (23)
  - Obesity (nutrition) (17)
  - Vitamins and supplements (46)
- Nutrition and metabolism (115)
- Obstetrics and gynaecology (532)
- Oncology (1412)
- Ophthalmology (710)
- Orthopaedics (343)
- Paediatrics
  - Adolescent health
  - Bilirubin disorders (9)
  - Child abuse (6)
  - Child and adolescent psychiatry (paedatrics) (9)
  - Child health
  - Childhood nutrition (paediatrics) (7)
  - Congenital disorders (274)
  - Developmental paediatrics (4)
  - Failure to thrive (19)
  - Infant health (31)
  - Infant nutrition (including breastfeeding) (5)
  - Materno-fetal medicine (72)
  - Neonatal and paediatric intensive care (92)
  - Neonatal health (90)
  - SIDS
- Paediatrics (789)
- Palliative care
  - End of life decisions (palliative care) (14)
  - Hospice
  - Pain (palliative care) (8)
- Palliative care (36)
- Pathology
  - Chemical pathology
  - Cytopathology
  - Histopathology
  - Inflammation
  - Microbiology
  - Microscopy
  - Molecular biology
  - Morbid anatomy / surgical pathology
  - Neuropathology
  - Virology
- Pathology (554)
- Pharmacology and therapeutics
  - Drug misuse (including addiction) (32)
  - Medicines regulation
  - Toxicology (55)
  - Unwanted effects / adverse reactions (307)
- Pharmacology and therapeutics (471)
- Prison medicine (1)
- Psychiatry
  - Adjustment disorders
  - Alcohol-related disorders (4)
  - Anxiety disorders (including OCD and PTSD) (17)
  - Child and adolescent psychiatry (10)
  - Delirium (17)
  - Drugs misuse (including addiction) (27)
  - Drugs: psychiatry (29)
  - Eating disorders (7)
  - Impulse control disorders (6)
  - Memory disorders (psychiatry) (22)
  - Mood disorders (including depression) (33)
  - Personality disorders (2)
  - Psychiatry of old age (8)
  - Psychotherapy (14)
  - Psychotic disorders (incl schizophrenia) (36)
  - Sexual and gender disorders (2)
  - Sleep disorders (2)
  - Somatoform disorders (6)
  - Suicide (psychiatry) (7)
- Psychiatry (212)
- Radiology (817)
- Rehabilitation medicine
  - Continuing medical education
  - Disability (16)
  - Other rehabilitative therapies
  - Physiotherapy (40)
- Rehabilitation medicine (82)
- Renal medicine
  - Acute renal failure (104)
  - Chronic renal failure (49)
  - Dialysis (61)
  - Fluid electrolyte and acid-base disturbances (78)
  - Nephrotic syndrome (29)
  - Proteinurea (29)
  - Renal transplantation (48)
- Renal medicine (357)
- Respiratory medicine (584)
- Rheumatology
  - Ankylosing spondylitis (2)
  - Biological agents (36)
  - Connective tissue disease (96)
  - Degenerative joint disease (9)
  - Drugs: musculoskeletal and joint diseases (25)
  - Fibromyalgia (2)
  - Musculoskeletal syndromes (71)
  - Osteoarthritis (13)
  - Osteoporosis (11)
  - Rheumatoid arthritis (38)
  - Sjogren's syndrome (3)
  - Systemic lupus erythematosus (58)
  - Vascularitis (158)
- Rheumatology (548)
- Sexual health (102)
- Sports and exercise medicine (119)
- Surgery
  - Breast surgery (68)
  - Cardiothoracic surgery (199)
  - Gastrointestinal surgery (428)
  - General surgery (455)
  - Neurosurgery (202)
  - Oral and maxillofacial surgery (140)
  - Orthopaedic and trauma surgery (229)
  - Otolaryngology / ENT (243)
  - Plastic and reconstructive surgery (174)
  - Surgical oncology (225)
  - Transplantation (59)
  - Urological surgery (182)
  - Vascular surgery (188)
- Surgery (2446)
- Urology (251)
NON-CLINICAL
- Communication
- Epidemiology
  - Clinical trials (epidemiology)
  - Epidemiologic studies
  - Population trends
  - Screening (epidemiology)
  - Survey techniques
  - Therapeutic trials
  - Time-to-event methods
- Ethics
  - Artificial and donated transplantation
  - Assisted dying
  - Bioethics
  - Clinical ethics
  - Codes of professional ethics
  - Competing interests (ethics)
  - Confidentiality
  - Drug issues
  - End of life decisions (ethics)
  - Ethics of abortion
  - Ethics of reproduction
  - Experiments in vivo
  - Informed consent
  - Research and publication ethics
  - Sexuality / gender
- Ethics (16)
- Ethnic studies (2)
- Health economics (7)
- Health informatics
  - Information management
  - Internet
  - IT
  - Telemedicine
- Health policy
- Health service research
- Journalology
- Legal and forensic medicine
- Medical careers
  - Choosing / changing career
  - Combining life and work
  - Communication
  - Continuous professional development
  - Flexible training
  - Getting and changing jobs
  - Getting and changing jobs (including job descriptions and contracts)
  - Leaving medicine
  - Medical careers
  - Organise and prepare your CV
  - Organise working abroad
  - Pay, working conditions, and health
  - Personal development
  - Portfolio development
  - Prepare for appraisal
  - Prepare for interview
  - Professional conduct and regulation
  - Professional regulation and standards
  - Retirement
- Medical education
  - History taking and the physical examination
  - Postgraduate
  - Undergraduate
- Medical education (106)
- Medical management
  - Doctors' morale and well being
  - Medical error/ patient safety
  - Quality improvement
- Medical management (206)
- Occupational and environmental medicine (134)
- Patients
- Public health
  - Abuse (child, partner, elder)
  - Air pollution
  - Alcohol
  - Drug misuse
  - Environmental issues
  - Health education
  - Health of indigenous peoples
  - Health promotion
  - Homicide
  - Housing and health
  - Human rights
  - Injury
  - Obesity (public health) (5)
  - Screening (public health)
  - Sexual health (public health)
  - Smoking
  - Social conditions and disease
  - Suicide (public health)
  - Urban health
  - Vaccination programs
  - Violence (other)
  - Violence against women
- Public health (67)
- Smoking and tobacco (15)
- Sociology (1)
- Statistics and research methods
  - Comparative effectiveness research
  - Qualitative research
  - Quantitative research
- Statistics and research methods (1)
Special collections

Log in using your username and password

Main menu

Log in using your username and password

You are here

Congenital disorders

Pages