You are here
- Home
- Congenital disorders
Congenital disorders
- Oval window perilymph fistula in child with recurrent meningitis and unilateral hearing lossMiane Min Yan Ng, Felice D'Arco, Raouf Chorbachi, Robert NashBMJ Case Reports CP Jul 2020, 13 (7) e234744; DOI: 10.1136/bcr-2020-234744
- CHARGE syndrome patient with novel CHD7 mutation presenting with severe laryngomalacia and feeding difficultyCheuk Lam Lau, Yuet Yee Chee, Brian Hon Yin Chung, Ming Sum Rosanna WongBMJ Case Reports CP Jul 2020, 13 (7) e233037; DOI: 10.1136/bcr-2019-233037
- Simplified management of a giant forehead congenital nevus allows for early reconstructionMoris Topaz, Michael Gurevich, Itamar AshkenaziBMJ Case Reports CP Jul 2020, 13 (7) e234164; DOI: 10.1136/bcr-2019-234164
- Oral manifestations of lamellar ichthyosis in association with ricketsNitesh Tewari, Vijay Prakash Mathur, Rigzin Tamchos, Morankar RahulBMJ Case Reports CP Jul 2020, 13 (7) e235008; DOI: 10.1136/bcr-2020-235008
- Surgical downsizing of a prosthetic ring in congenital mitral valve regurgitationRita Ataíde Silva, Susana Cordeiro, Isabel Menezes, Jose NevesBMJ Case Reports CP Jul 2020, 13 (7) e235788; DOI: 10.1136/bcr-2020-235788
- Two novel mutations in the CLCNKB gene leading to classic Bartter syndrome presenting as syncope and hypertension in a 13-year-old boyBinh T Le, Cuong M Duong, Tien Q Nguyen, Chi-Bao BuiBMJ Case Reports CP Jul 2020, 13 (7) e233872; DOI: 10.1136/bcr-2019-233872
- Congenital haemifacial hyperplasiaAbhinav Bansal, Ankur Goyal, Ashu Seith Bhalla, Krushna BhattBMJ Case Reports CP Jul 2020, 13 (7) e236504; DOI: 10.1136/bcr-2020-236504
- Cystic kidneys in a neonate: do not forget to examine pupilsPiyush Mittal, Amrit Kaur, Jogender Kumar, Praveen KumarBMJ Case Reports CP Jul 2020, 13 (7) e236517; DOI: 10.1136/bcr-2020-236517
- Multidisciplinary management of ankyloblepharon filiforme adnatumHenry Armes, Sarah Anne Williams, Jonathan Dunne, Simon James EcclesBMJ Case Reports CP Jul 2020, 13 (7) e234249; DOI: 10.1136/bcr-2020-234249
- Aarskog-Scott syndrome: clinical and molecular characterisation of a family with the coexistence of a novel FGD1 mutation and 16p13.11-p12.3 microduplicationPiero Pavone, Silvia Marino, Antonino Maniaci, Salvatore CocuzzaBMJ Case Reports CP Jun 2020, 13 (6) e235183; DOI: 10.1136/bcr-2020-235183
Pages
- CLINICAL
- Anaesthesia (90)
- Cardiovascular medicine (461)
- Dermatology (237)
- Diagnostics
- Drugs and medicines (836)
- Emergency medicine
- Poisoning (22)
- Resuscitation (36)
- Trauma (78)
- Emergency medicine (224)
- Endocrinology
- Adrenal disorders (70)
- Calcium and bone (44)
- Diabetes (61)
- Lipid disorders (9)
- Metabolic disorders (41)
- Pituitary disorders (29)
- Thyroid disease (59)
- Endocrinology (303)
- Evidence based practice
- Gastroenterology (448)
- Gastroenterology
- Endoscopy (82)
- GI bleeding (47)
- Liver disease (93)
- Oesophagus (27)
- Pancreatitis (34)
- Small intestine (41)
- Stomach and duodenum (42)
- Genetics
- Genetics (111)
- Geriatric medicine
- Long term care (8)
- Geriatric medicine (27)
- HIV/AIDS (34)
- Infectious diseases (611)
- Intensive care
- Adult intensive care (148)
- Intensive care (254)
- Neurology
- Cerebral palsy (4)
- Cranial nerves (45)
- Dementia (7)
- Hydrocephalus (8)
- Muscle disease (24)
- Neuroimaging (160)
- Neurological injury (37)
- Neurooncology (47)
- Pain (neurology) (19)
- Spinal cord (44)
- Stroke (108)
- Trauma CNS / PNS (19)
- Neurology (696)
- Nursing (17)
- Nutrition and metabolism
- Diet (15)
- Malnutrition (10)
- Obesity (nutrition) (10)
- Oncology (648)
- Ophthalmology (333)
- Orthopaedics (164)
- Paediatrics
- Child abuse (3)
- Congenital disorders (128)
- Infant health (17)
- Neonatal health (40)
- Paediatrics (355)
- Palliative care
- Palliative care (17)
- Pathology
- Pathology (246)
- Pharmacology and therapeutics
- Toxicology (24)
- Psychiatry
- Delirium (9)
- Drugs: psychiatry (10)
- Eating disorders (4)
- Psychotherapy (6)
- Psychiatry (104)
- Radiology (378)
- Rehabilitation medicine
- Disability (3)
- Physiotherapy (18)
- Renal medicine
- Acute renal failure (57)
- Dialysis (26)
- Nephrotic syndrome (10)
- Proteinurea (15)
- Renal medicine (158)
- Respiratory medicine (263)
- Rheumatology
- Biological agents (10)
- Fibromyalgia (1)
- Osteoarthritis (7)
- Osteoporosis (4)
- Rheumatoid arthritis (21)
- Vascularitis (81)
- Rheumatology (260)
- Sexual health (47)
- Surgery
- Breast surgery (28)
- Gastrointestinal surgery (211)
- General surgery (233)
- Neurosurgery (99)
- Otolaryngology / ENT (120)
- Surgical oncology (112)
- Transplantation (30)
- Urological surgery (88)
- Vascular surgery (87)
- Surgery (1170)
- Urology (125)
- NON-CLINICAL
- Epidemiology
- Ethics
- Ethics (10)
- Ethnic studies (1)
- Health economics (4)
- Health informatics
- Medical careers
- Medical education
- Medical education (43)
- Medical management
- Medical management (86)
- Public health
- Public health (29)
- Smoking and tobacco (10)
- Statistics and research methods
- Special collections
- BMJ Series
- Case Reports
- Global health (33)
- Images in... (1053)
- Learning from errors (76)
- New disease (44)
- Rare disease (996)
- COVID-19 (164)
- Editor's choice (40)
- Endgames
- Open access (320)
- Original research articles