Congenital disorders

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
Femur fracture in a paediatric patient with hereditary hyaline fibromatosis syndrome
Hannah Louise Morley, David L Shaw, Gary Hannant

BMJ Case Reports CP Apr 2022, 15 (4) e248447; DOI: 10.1136/bcr-2021-248447
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
Unexplained, congenital chyloperitoneum
Claire Emma Strauss

BMJ Case Reports CP Mar 2022, 15 (3) e244372; DOI: 10.1136/bcr-2021-244372
Unusual presentation of acute encephalopathy with biphasic seizures and late reduced diffusion in Miller–Dieker syndrome
Satoru Kobayashi, Mai Kamishima, Kyoko Yokoi, Satoshi Suzuki

BMJ Case Reports CP Mar 2022, 15 (3) e248190; DOI: 10.1136/bcr-2021-248190
Management of a recurrent encapsulated bleb with a cost-effective non-valved glaucoma drainage device
George Varghese Puthuran, Hiruni Kaushalya Wijesinghe, Mayank Jain, Paul Palmberg

BMJ Case Reports CP Mar 2022, 15 (3) e244553; DOI: 10.1136/bcr-2021-244553
Non-specificity of symptoms in infantile-onset Pompe disease may delay the diagnosis and institution of treatment
Udara Dilrukshi Senarathne, Eresha Jasinge, Sarojini Viknarajah Mohan, Samantha Waidyanatha

BMJ Case Reports CP Mar 2022, 15 (3) e247312; DOI: 10.1136/bcr-2021-247312
Diffuse hepatocellular carcinoma secondary to cardiac cirrhosis in heterotaxy syndrome
Akash Mathavan, Akshay Mathavan, Keegan Hones, Ellery Altshuler

BMJ Case Reports CP Mar 2022, 15 (3) e248836; DOI: 10.1136/bcr-2022-248836
Fetus in fetu: use of intraoperative ultrasound for safe excision of a rare entity
Darci C Foote, Alyssa Kirsch, Terrence Metz, Pavan Brahmamdam

BMJ Case Reports CP Mar 2022, 15 (3) e245371; DOI: 10.1136/bcr-2021-245371
First-line genome sequencing is here to stay, but how crucial is clinical phenotyping going to be?
James Taylor, Meena Balasubramanian

BMJ Case Reports CP Mar 2022, 15 (3) e247238; DOI: 10.1136/bcr-2021-247238

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Congenital disorders

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