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Congenital disorders
- Two novel mutations in the CLCNKB gene leading to classic Bartter syndrome presenting as syncope and hypertension in a 13-year-old boyBinh T Le, Cuong M Duong, Tien Q Nguyen, Chi-Bao BuiBMJ Case Reports CP Jul 2020, 13 (7) e233872; DOI: 10.1136/bcr-2019-233872
- Congenital haemifacial hyperplasiaAbhinav Bansal, Ankur Goyal, Ashu Seith Bhalla, Krushna BhattBMJ Case Reports CP Jul 2020, 13 (7) e236504; DOI: 10.1136/bcr-2020-236504
- Cystic kidneys in a neonate: do not forget to examine pupilsPiyush Mittal, Amrit Kaur, Jogender Kumar, Praveen KumarBMJ Case Reports CP Jul 2020, 13 (7) e236517; DOI: 10.1136/bcr-2020-236517
- Multidisciplinary management of ankyloblepharon filiforme adnatumHenry Armes, Sarah Anne Williams, Jonathan Dunne, Simon James EcclesBMJ Case Reports CP Jul 2020, 13 (7) e234249; DOI: 10.1136/bcr-2020-234249
- Aarskog-Scott syndrome: clinical and molecular characterisation of a family with the coexistence of a novel FGD1 mutation and 16p13.11-p12.3 microduplicationPiero Pavone, Silvia Marino, Antonino Maniaci, Salvatore CocuzzaBMJ Case Reports CP Jun 2020, 13 (6) e235183; DOI: 10.1136/bcr-2020-235183
- Odevixibat and partial external biliary diversion showed equal improvement of cholestasis in a patient with progressive familial intrahepatic cholestasisChristoph Slavetinsky, Ekkehard SturmBMJ Case Reports CP Jun 2020, 13 (6) e234185; DOI: 10.1136/bcr-2019-234185
- Curious case of a toddler with discrepant limb lengths and gangrene: a rare vascular malformationHimanshi Chaudhary, Archana Krishnappa, Ankur Kumar Jindal, Rajesh VijayvergiyaBMJ Case Reports CP Jun 2020, 13 (6) e235800; DOI: 10.1136/bcr-2020-235800
- Late-presenting congenital polypoid lesion of the nasopharynxValentinos Sofokleous, Theodoros Drakos-Galanis, Panagiotis Chadoulos, Ioannis PsarommatisBMJ Case Reports CP Jun 2020, 13 (6) e235712; DOI: 10.1136/bcr-2020-235712
- Successful utilisation of epidural analgesia for perioperative pain management in a child with sodium voltage-gated channel alpha subunit (SCN1A) gene mutationJenna H Sobey, Carrie C Menser, Srijaya K Reddy, Elisabeth M HughesBMJ Case Reports CP Jun 2020, 13 (6) e234314; DOI: 10.1136/bcr-2020-234314
- Ebstein anomaly associated with cri du chat (cat’s cry) syndrome and 20q duplicationAlberto Olivella, Hernan Manotas, César Payán-Gómez, Juan Gabriel PiñerosBMJ Case Reports CP Jun 2020, 13 (6) e233766; DOI: 10.1136/bcr-2019-233766
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