Genetic Screening / Counselling

Mitochondrial respiratory chain complex IV deficiency presenting as neonatal respiratory distress syndrome
Shrinal Kotecha, Venkatesh Kairamkonda

BMJ Case Reports CP Jul 2019, 12 (7) e229668; DOI: 10.1136/bcr-2019-229668
Lethal multiple pterygium syndrome
Farzeen Shuaib Mohtisham, Adel Sallam, Aiman Shawli

BMJ Case Reports CP May 2019, 12 (5) e229045; DOI: 10.1136/bcr-2018-229045
Child with unusual combination of sickle cell disease and autosomal recessive agammaglobulinemia associated with a novel CD79a gene mutation
Rosa Martins, Sofia Fraga, Isabel Esteves, Paulo Calhau

BMJ Case Reports CP Feb 2019, 12 (2) bcr-2018-227346; DOI: 10.1136/bcr-2018-227346
Incidental detection of asymptomatic pneumothorax resulting in a diagnosis of Birt-Hogg-Dubé syndrome
Keigo Kobayashi

BMJ Case Reports CP Jan 2019, 12 (1) bcr-2018-228939; DOI: 10.1136/bcr-2018-228939
Recurrent case of pregnancy-induced atypical haemolytic uremic syndrome (P-aHUS)
Dileep Kumar, Mary King, Belinda Jim, Anjali Acharya

BMJ Case Reports CP Jan 2019, 12 (1) bcr-2018-226571; DOI: 10.1136/bcr-2018-226571
PIBIDS syndrome in two Brazilian siblings
Kerstin Taniguchi Abagge, Felipe Haupenthal, Gabriella Yamashita Felber, Salmo Raskin

BMJ Case Reports CP Nov 2018, 11 (1) e223744; DOI: 10.1136/bcr-2017-223744
Special form of osteoporosis in a 53-year-old man
Simon Lampart, Silvia Azzarello-Burri, Christoph Henzen, Stefan Fischli

BMJ Case Reports CP Nov 2018, 11 (1) e226672; DOI: 10.1136/bcr-2018-226672
Prenatal diagnosis and management of fetal discordant alpha-thalassaemia in dichorionic diamniotic (DCDA) twins
Tachjaree Panchalee, Pornpimol Ruangvutilert, Pattarawan Limsiri, Pavit Sutcharitpongsa

Case Reports Oct 2018, 2018 bcr-2018-224362; DOI: 10.1136/bcr-2018-224362
APRT deficiency: the need for early diagnosis
Aamira Huq, Kushma Nand, Rajiv Juneja, Ingrid Winship

Case Reports Oct 2018, 2018 bcr-2018-225742; DOI: 10.1136/bcr-2018-225742
Lady with ‘lobster claw’ feet
Amani Aman, Louis Darby, Muhammad Javaid Hameed Rahmani

Case Reports Oct 2018, 2018 bcr-2018-226368; DOI: 10.1136/bcr-2018-226368

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CLINICAL
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Genetic Screening / Counselling

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