Genetic screening / counselling

Hereditary thrombotic thrombocytopenic purpura (TTP) with co-occurring autosomal dominant polycystic kidney disease (ADPKD)
Randah Dahlan, Eman Bablghaith

BMJ Case Reports CP Nov 2022, 15 (11) e250378; DOI: 10.1136/bcr-2022-250378
Rare MYC-N11S germline mutation indicative of inherited breast cancer in a multigeneration family
Laura Budurlean, Maria Baker, James Broach

BMJ Case Reports CP Nov 2022, 15 (11) e251336; DOI: 10.1136/bcr-2022-251336
Whole exome sequencing based identification of a case of cardiofaciocutaneous syndrome type 3: the benefits of new sequencing technology in children with neurodevelopmental delay
Daniel O'Reilly, Sharon Dempsey, Michael Joseph O'Grady, Taha Ibrahim Yousif

BMJ Case Reports CP Nov 2022, 15 (11) e251871; DOI: 10.1136/bcr-2022-251871
Infant with Loeys-Dietz syndrome treated for febrile status epilepticus with COVID-19 infection: first reported case of febrile status epilepticus and focal seizures in a patient with Loeys-Dietz syndrome and review of literature
Asra Akbar, Sharjeel Ahmad, Sean Creeden, Huan Huynh

BMJ Case Reports CP Nov 2022, 15 (11) e250587; DOI: 10.1136/bcr-2022-250587
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
GLMN causing vascular malformations: the clinical and genetic differentiation of cutaneous venous malformations
Mollie Helena McMahon, Nasim Tahir, Meena Balasubramanian

BMJ Case Reports CP Jun 2022, 15 (6) e246114; DOI: 10.1136/bcr-2021-246114
Prenatal diagnosis of fetal hemivertebra at 12 weeks of gestation
Diana Monteiro, Inês Sarmento Gonçalves, Cristina Godinho, Rosete Novais Nogueira

BMJ Case Reports CP Jun 2022, 15 (6) e251293; DOI: 10.1136/bcr-2022-251293
Rare case of multiple and perforating pilomatrixomas in a young girl with lymphovascular malformation reveals a potential new disease association
Clara Smith, David Hamilton, Stuart Waterston

BMJ Case Reports CP May 2022, 15 (5) e248076; DOI: 10.1136/bcr-2021-248076
Late maternal diagnosis of DiGeorge syndrome with congenital hypoparathyroidism following antenatal detection of the same 22q11.2 microdeletion syndrome in the fetus
Alexandros Leonidas Liarakos, Patrick Tran, Ranganatha Rao, Narasimha Murthy

BMJ Case Reports CP May 2022, 15 (5) e250350; DOI: 10.1136/bcr-2022-250350
Response in BRCA1 mutation carrier with metastatic pancreatic adenocarcinoma treated with FOLFIRINOX
Leticia Estefania Campoverde, Felipe Batalini, Yarab Bulushi, Andrea Bullock

BMJ Case Reports CP Apr 2022, 15 (4) e249370; DOI: 10.1136/bcr-2022-249370

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Genetic screening / counselling

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