Genetic screening / counselling

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
RNA sequencing uncovers clinically actionable germline intronic MSH2 variants in previously unresolved Lynch syndrome families
Kelly Fulk, Morgan Turner, Amanda Eppolito, Rebekah Krukenberg

BMJ Case Reports CP Apr 2022, 15 (4) e249580; DOI: 10.1136/bcr-2022-249580
Prenatal diagnosis of craniorachischisis totalis
Paulina Costa, Andreia Fontoura Oliveira, António Baptista Vilaça

BMJ Case Reports CP Apr 2022, 15 (4) e244682; DOI: 10.1136/bcr-2021-244682
Homozygous V377I mutation causing mevalonate kinase
Teresa Brito, Denise Banganho, Cristina Pedrosa, João Farela Neves

BMJ Case Reports CP Apr 2022, 15 (4) e249135; DOI: 10.1136/bcr-2022-249135
Transient infantile hypertriglyceridaemia due to homozygous mutation in GPD1 presenting in childhood with hepatic adenoma
Karunesh Kumar, Smita Malhotra, Anupam Sibal

BMJ Case Reports CP Apr 2022, 15 (4) e248801; DOI: 10.1136/bcr-2022-248801
Pseudo-hypertriglyceridaemia in glycerol kinase deficiency misdiagnosed and treated as true hypertriglyceridaemia
Vivek Pant, Devish Pyakurel, Keyoor Gautam, Santosh Pradhan

BMJ Case Reports CP Mar 2022, 15 (3) e248251; DOI: 10.1136/bcr-2021-248251
Mutation of the MYL3 gene in a patient with mid-ventricular obstructive hypertrophic cardiomyopathy
Akash Mavilakandy, Hisham Ahamed

BMJ Case Reports CP Mar 2022, 15 (3) e244573; DOI: 10.1136/bcr-2021-244573

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Genetic screening / counselling

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