Genetic Screening / Counselling

Recurrent fetal triploidy: is there a genetic cause?
Andreia Fontoura Oliveira, Maria Manuel Torrão, Rosete Nogueira, Manuela Ferreira

BMJ Case Reports CP Mar 2021, 14 (3) e239843; DOI: 10.1136/bcr-2020-239843
Heterozygous deletion in exon 6 of STEX gene causing ataxia with oculomotor apraxia type 2 (AOA-2) with ovarian failure
Jiwan Shriram Kinkar, Patel Zeeshan Jameel, Banshi Lal Kumawat, Priyanka Kalbhor

BMJ Case Reports CP Jun 2021, 14 (6) e241767; DOI: 10.1136/bcr-2021-241767
Cowden syndrome: new clinical features in a large family; joint hyperextensibility, dental abnormalities and gingival enlargement
Ataf Sabir, Gabriella Parry, Tricia Heaton, Kai Ren Ong

BMJ Case Reports CP Mar 2021, 14 (3) e236768; DOI: 10.1136/bcr-2020-236768
Delineation of an unknown significance FANCA genetic variant in a recurrent breast cancer patient
Stavroula Kastora, Olga Triantafyllidou, Georgios Kounidas, Nikolaos Vlahos

BMJ Case Reports CP Mar 2021, 14 (3) e241251; DOI: 10.1136/bcr-2020-241251
Atypical morphological variants of congenital cataract in Down’s syndrome
Sudarshan Khokhar, Mousumi Banerjee, Sandton Jayakumari Simon Raj, Shweta Sandhu

BMJ Case Reports CP May 2021, 14 (5) e242759; DOI: 10.1136/bcr-2021-242759
Alkaptonuria: clinical manifestations and an updated approach to treatment of a rare disease
Ryan Curtis Roopnarinesingh, Noel Edward Donlon, John V Reynolds

BMJ Case Reports CP Dec 2021, 14 (12) e244240; DOI: 10.1136/bcr-2021-244240
BRAF V600E-mutated combined large cell neuroendocrine carcinoma and adenocarcinoma responding to targeted therapy
Tomohiro Sakamoto, Katsunori Arai, Karen Makishima, Akira Yamasaki

BMJ Case Reports CP Dec 2021, 14 (12) e243295; DOI: 10.1136/bcr-2021-243295
Lithium-induced ECG modifications: navigating from acute coronary syndrome to Brugada syndrome
Léonard Diserens, Alessandra Pia Porretta, Catalina Trana, David Meier

BMJ Case Reports CP Jun 2021, 14 (6) e241555; DOI: 10.1136/bcr-2021-241555
Cardiac fibroma with cardiac arrest: a rare clinical presentation of Gorlin syndrome in an 8-month-old infant
Mohammad Baidoun, Mohamed Elgendy, James Loker

BMJ Case Reports CP Jun 2021, 14 (6) e241519; DOI: 10.1136/bcr-2020-241519
Cardiac arrest in a patient with trichorhinophalangeal syndrome and dilated cardiomyopathy
Gautam Sen, Eleanor Barendt, Manas Sinha

BMJ Case Reports CP Feb 2021, 14 (2) e237604; DOI: 10.1136/bcr-2020-237604

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Genetic Screening / Counselling

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