Congenital disorders

Congenital CMV associated with diaphragm dysfunction: a rare cause of tachypnoea
Rebecca Carter, Maayan Yakir, Julie Ryu, Katherine Weiss

BMJ Case Reports CP Jul 2023, 16 (7) e247959; DOI: 10.1136/bcr-2021-247959
Osteogenesis imperfecta type VIII: highlighting the need for genetic testing
Haika Mariki, Kandi Muze, Fatima Mussa, Karim Premji Manji

BMJ Case Reports CP Jul 2023, 16 (7) e253155; DOI: 10.1136/bcr-2022-253155
Midgut volvulus in a pediatric patient with chronic constipation, congenital intestinal malrotation and internal transmesocolic hernia
Emily Brezler, Rita Sico, Federico G Seifarth

BMJ Case Reports CP Jul 2023, 16 (7) e254425; DOI: 10.1136/bcr-2022-254425
Lateral semicircular canal dilatation in a patient with congenital hearing loss due to α-tectorin mutation: microanatomical considerations
Anastasios Goulioumis, Michalis Athanasopoulos, Kleanthi Kalogerakou, Kostis Gyftopoulos

BMJ Case Reports CP Jun 2023, 16 (6) e254068; DOI: 10.1136/bcr-2022-254068
Gastric duplication cyst of a bifid pancreas: cause of recurrent vomiting
Rita Pina-Prata, Filipa Rosa, Inês Fontes, Sofia Morão

BMJ Case Reports CP Jun 2023, 16 (6) e254019; DOI: 10.1136/bcr-2022-254019
Successful bailout stenting for critical aortic coarctation in a premature baby weighing 590 g
Kumiyo Matsuo, Dai Asada, Hisaaki Aoki, Futoshi Kayatani

BMJ Case Reports CP Jun 2023, 16 (6) e255215; DOI: 10.1136/bcr-2023-255215
Novel variant CPLANE 1: c.5051C>A (p.Ser1684Ter) in an Indian neonate with Joubert syndrome
Saikat Patra, Garima Goyal, Yasir Ahmad Lone, Girish Gupta

BMJ Case Reports CP May 2023, 16 (5) e255561; DOI: 10.1136/bcr-2023-255561
Arthrogryposis, renal dysfunction, cholestasis syndrome in a neonate: an uncommon association of common problems
Aamina Saad, Avantika Chauhan, Shalini Tripathi, Mala Kumar

BMJ Case Reports CP May 2023, 16 (5) e254822; DOI: 10.1136/bcr-2023-254822
Primary congenital hypothyroidism: challenges in a low-income country without paediatric endocrinologist and universal newborn screening
Sakviseth Bin, Kimyi Phou, Sethikar Im

BMJ Case Reports CP May 2023, 16 (5) e249997; DOI: 10.1136/bcr-2022-249997
Massive mature cystic teratoma of the head and neck, masquerading as a glial choristoma, causing respiratory compromise of a neonate
Tessa Kirsty Suttle, Timothy Els

BMJ Case Reports CP Apr 2023, 16 (4) e252587; DOI: 10.1136/bcr-2022-252587

Pages

CLINICAL
- Anaesthesia (202)
- Cardiovascular medicine (949)
- Complementary medicine (6)
- Dentistry and oral medicine (205)
- Dermatology (508)
- Diagnostics
  - Clinical diagnostic tests (50)
  - Radiology (diagnostics) (146)
  - Surgical diagnostic tests (23)
- Diagnostics
- Drugs and medicines (1777)
- Ear, nose and throat/otolaryngology (426)
- Emergency medicine
  - Disaster response
  - Poisoning (49)
  - Resuscitation (57)
  - Trauma (160)
- Emergency medicine (463)
- Endocrinology
  - Adrenal disorders (118)
  - Calcium and bone (97)
  - Diabetes (127)
  - Drugs: endocrine system (25)
  - Lipid disorders (26)
  - Metabolic disorders (89)
  - Pituitary disorders (57)
  - Thyroid disease (118)
- Endocrinology (634)
- Evidence based practice
  - Changing physician behavior
  - Effectiveness of care
  - Guidelines
- Gastroenterology (896)
- Gastroenterology
  - Drugs: gastrointestinal system (44)
  - Endoscopy (165)
  - GI bleeding (99)
  - Infection (gastroenterology) (107)
  - Inflammatory bowel disease (72)
  - Liver disease (186)
  - Neurogastroenterology
  - Oesophagus (55)
  - Pancreas and biliary tract (100)
  - Pancreatitis (61)
  - Portal hypertension (16)
  - Small intestine (76)
  - Stomach and duodenum (85)
- General practice / family medicine (228)
- Genetics
  - Clinical genetics
  - Cytogenetics
  - Genetic screening / counselling (92)
  - Molecular genetics
- Genetics (283)
- Geriatric medicine
  - Elder abuse
  - End of life decisions (geriatric medicine) (2)
  - Long term care (18)
  - Psychogeriatrics
- Geriatric medicine (62)
- Haematology (incl blood transfusion) (518)
- HIV/AIDS (80)
- Immunology (including allergy) (55)
- Infectious diseases (1282)
- Intensive care
  - Adult intensive care (301)
  - Mechanical ventilation (19)
  - Neonatal intensive care (90)
  - Paediatric intensive care (69)
- Intensive care (552)
- Neurology
  - Brain stem / cerebellum (85)
  - Cerebral palsy (6)
  - Clinical neurophysiology (40)
  - Coma and raised intracranial pressure (29)
  - Cranial nerves (107)
  - Dementia (7)
  - Drugs: CNS (not psychiatric) (33)
  - Epilepsy and seizures (116)
  - Headache (including migraine) (9)
  - Hydrocephalus (22)
  - Infection (neurology) (166)
  - Motor neurone disease (14)
  - Movement disorders (other than Parkinsons) (63)
  - Multiple sclerosis (19)
  - Muscle disease (40)
  - Neuroimaging (396)
  - Neurological injury (71)
  - Neuromuscular disease (77)
  - Neurooncology (116)
  - Neuroophthalmology (8)
  - Pain (neurology) (47)
  - Parkinson's disease (7)
  - Peripheral nerve disease (84)
  - Sleep disorders (neurology) (8)
  - Spinal cord (105)
  - Stroke (239)
  - Trauma CNS / PNS (40)
  - Variant Creutzfeld-Jakob Disease (2)
- Neurology (1557)
- Nursing (36)
- Nutrition and metabolism
  - Childhood nutrition (5)
  - Diet (21)
  - Malnutrition (24)
  - Obesity (nutrition) (17)
  - Vitamins and supplements (46)
- Nutrition and metabolism (117)
- Obstetrics and gynaecology (545)
- Oncology (1449)
- Ophthalmology (733)
- Orthopaedics (352)
- Paediatrics
  - Adolescent health
  - Bilirubin disorders (9)
  - Child abuse (6)
  - Child and adolescent psychiatry (paedatrics) (9)
  - Child health
  - Childhood nutrition (paediatrics) (7)
  - Congenital disorders (280)
  - Developmental paediatrics (4)
  - Failure to thrive (19)
  - Infant health (32)
  - Infant nutrition (including breastfeeding) (5)
  - Materno-fetal medicine (72)
  - Neonatal and paediatric intensive care (96)
  - Neonatal health (93)
  - SIDS
- Paediatrics (825)
- Palliative care
  - End of life decisions (palliative care) (14)
  - Hospice
  - Pain (palliative care) (8)
- Palliative care (37)
- Pathology
  - Chemical pathology
  - Cytopathology
  - Histopathology
  - Inflammation
  - Microbiology
  - Microscopy
  - Molecular biology
  - Morbid anatomy / surgical pathology
  - Neuropathology
  - Virology
- Pathology (567)
- Pharmacology and therapeutics
  - Drug misuse (including addiction) (33)
  - Medicines regulation
  - Toxicology (56)
  - Unwanted effects / adverse reactions (311)
- Pharmacology and therapeutics (477)
- Prison medicine (1)
- Psychiatry
  - Adjustment disorders
  - Alcohol-related disorders (4)
  - Anxiety disorders (including OCD and PTSD) (18)
  - Child and adolescent psychiatry (11)
  - 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) (37)
  - Sexual and gender disorders (2)
  - Sleep disorders (2)
  - Somatoform disorders (6)
  - Suicide (psychiatry) (7)
- Psychiatry (217)
- Radiology (840)
- Rehabilitation medicine
  - Continuing medical education
  - Disability (17)
  - Other rehabilitative therapies
  - Physiotherapy (41)
- Rehabilitation medicine (84)
- Renal medicine
  - Acute renal failure (107)
  - Chronic renal failure (49)
  - Dialysis (61)
  - Fluid electrolyte and acid-base disturbances (78)
  - Nephrotic syndrome (29)
  - Proteinurea (29)
  - Renal transplantation (48)
- Renal medicine (361)
- Respiratory medicine (598)
- Rheumatology
  - Ankylosing spondylitis (2)
  - Biological agents (37)
  - Connective tissue disease (97)
  - Degenerative joint disease (9)
  - Drugs: musculoskeletal and joint diseases (26)
  - Fibromyalgia (2)
  - Musculoskeletal syndromes (71)
  - Osteoarthritis (13)
  - Osteoporosis (11)
  - Rheumatoid arthritis (40)
  - Sjogren's syndrome (3)
  - Systemic lupus erythematosus (60)
  - Vascularitis (161)
- Rheumatology (559)
- Sexual health (102)
- Sports and exercise medicine (122)
- Surgery
  - Breast surgery (69)
  - Cardiothoracic surgery (205)
  - Gastrointestinal surgery (432)
  - General surgery (457)
  - Neurosurgery (204)
  - Oral and maxillofacial surgery (142)
  - Orthopaedic and trauma surgery (235)
  - Otolaryngology / ENT (246)
  - Plastic and reconstructive surgery (177)
  - Surgical oncology (230)
  - Transplantation (61)
  - Urological surgery (183)
  - Vascular surgery (192)
- Surgery (2490)
- Urology (258)
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 (108)
- Medical management
  - Doctors' morale and well being
  - Medical error/ patient safety
  - Quality improvement
- Medical management (208)
- Occupational and environmental medicine (141)
- 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 (68)
- Smoking and tobacco (16)
- 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