Congenital disorders

Two novel mutations in the CLCNKB gene leading to classic Bartter syndrome presenting as syncope and hypertension in a 13-year-old boy
Binh T Le, Cuong M Duong, Tien Q Nguyen, Chi-Bao Bui

BMJ Case Reports CP Jul 2020, 13 (7) e233872; DOI: 10.1136/bcr-2019-233872
Congenital haemifacial hyperplasia
Abhinav Bansal, Ankur Goyal, Ashu Seith Bhalla, Krushna Bhatt

BMJ Case Reports CP Jul 2020, 13 (7) e236504; DOI: 10.1136/bcr-2020-236504
Cystic kidneys in a neonate: do not forget to examine pupils
Piyush Mittal, Amrit Kaur, Jogender Kumar, Praveen Kumar

BMJ Case Reports CP Jul 2020, 13 (7) e236517; DOI: 10.1136/bcr-2020-236517
Multidisciplinary management of ankyloblepharon filiforme adnatum
Henry Armes, Sarah Anne Williams, Jonathan Dunne, Simon James Eccles

BMJ 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 microduplication
Piero Pavone, Silvia Marino, Antonino Maniaci, Salvatore Cocuzza

BMJ 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 cholestasis
Christoph Slavetinsky, Ekkehard Sturm

BMJ 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 malformation
Himanshi Chaudhary, Archana Krishnappa, Ankur Kumar Jindal, Rajesh Vijayvergiya

BMJ Case Reports CP Jun 2020, 13 (6) e235800; DOI: 10.1136/bcr-2020-235800
Late-presenting congenital polypoid lesion of the nasopharynx
Valentinos Sofokleous, Theodoros Drakos-Galanis, Panagiotis Chadoulos, Ioannis Psarommatis

BMJ 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 mutation
Jenna H Sobey, Carrie C Menser, Srijaya K Reddy, Elisabeth M Hughes

BMJ 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 duplication
Alberto Olivella, Hernan Manotas, César Payán-Gómez, Juan Gabriel Piñeros

BMJ Case Reports CP Jun 2020, 13 (6) e233766; DOI: 10.1136/bcr-2019-233766

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Congenital disorders

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