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Congenital disorders
- Unusual variant of pseudo prune belly syndromeArun Kumar Loganathan, Ravi Kishore Barla S S, Jujju Jacob KurianBMJ Case Reports CP Oct 2020, 13 (10) e236611; DOI: 10.1136/bcr-2020-236611
- Bloom’s syndrome with growth hormone deficiency: a rare associationMadhavi Verpula, Vijay Sheker Reddy Danda, Srinivas Rao Paidipally, Chaitanya KondaBMJ Case Reports CP Oct 2020, 13 (10) e235238; DOI: 10.1136/bcr-2020-235238
- Clinical, pharmacokinetic and economic analysis of the first switch to an extended half-life factor IX (albutrepenonacog alfa, rFIX-FP) in SpainManuel Rodríguez López, Juan Eduardo Megías Vericat, Carmen Albo López, Santiago BonanadBMJ Case Reports CP Oct 2020, 13 (10) e234142; DOI: 10.1136/bcr-2019-234142
- Combined homozygous 21 hydroxylase with heterozygous P450 oxidoreductase mutation in a Saudi boy presented with hypertensionAida Aljabri, Fatimah Alnaim, Yasin AlsalehBMJ Case Reports CP Sep 2020, 13 (9) e233942; DOI: 10.1136/bcr-2019-233942
- Dental considerations in a paediatric patient with Diamond-Blackfan anaemiaImam Azam, Morankar Rahul, Nitesh Tewari, Kalpana BansalBMJ Case Reports CP Sep 2020, 13 (9) e237992; DOI: 10.1136/bcr-2020-237992
- Utilisation of advanced MRI techniques to understand neurovascular complications of PHACE syndrome: a case of arterial stenosis and dissectionLaura B Eisenmenger, Leonardo A Rivera-Rivera, Kevin M Johnson, Beth A DroletBMJ Case Reports CP Sep 2020, 13 (9) e235992; DOI: 10.1136/bcr-2020-235992
- Congenital absence of the nasal septum in a Nigerian newborn with multiple congenital anomaliesIsa Abdulkadir, Sani Musa, Fatima Lami Abdullahi, Laila HassanBMJ Case Reports CP Sep 2020, 13 (9) e235845; DOI: 10.1136/bcr-2020-235845
- False elevation of serum cortisol in chemiluminescence immunoassay by Siemens Advia Centaur XP system in 21-hydroxylase deficiency: an ‘endocrine laboma’Neeti Agrawal, Partha Pratim Chakraborty, Anirban Sinha, Animesh MaitiBMJ Case Reports CP Sep 2020, 13 (9) e235450; DOI: 10.1136/bcr-2020-235450
- Fourth branchial pouch anomaly presenting as a neonatal neck lumpJacob Reading, Robert Nash, Benjamin HartleyBMJ Case Reports CP Sep 2020, 13 (9) e237551; DOI: 10.1136/bcr-2020-237551
- Management of large congenital chylous ascites in a preterm infant: fetal and neonatal interventionsLoo Sooklin, Amudha Jayanthi Anand, Victor Samuel Rajadurai, Suresh ChandranBMJ Case Reports CP Sep 2020, 13 (9) e235849; DOI: 10.1136/bcr-2020-235849
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