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Congenital disorders
- Congenital ichthyosis: a multidisciplinary approach in a neonatal care unitJoana Valente Dias, Kátia Cardoso, Sara Noéme Prado, Hugo CavacoBMJ Case Reports CP Feb 2023, 16 (2) e250077; DOI: 10.1136/bcr-2022-250077
- Neurocristic cutaneous hamartoma of the scalp with disseminated melanocytic neviHaika Mariki, Naomi Mwamanenge, Martha Mkony, Karim Premji ManjiBMJ Case Reports CP Feb 2023, 16 (2) e253156; DOI: 10.1136/bcr-2022-253156
- Congenital subglottic cyst: a rare cause for sudden airway compromise in a newbornSamuel Peter Last, Heather Isabel Patterson, Neil Hauser, Shyan VijayasekaranBMJ Case Reports CP Feb 2023, 16 (2) e253750; DOI: 10.1136/bcr-2022-253750
- Vaginal bleeding in a newborn as initial presentation of uterus didelphysFarrah Saleh, Mary Lou Gaeta, Ilona Rost, Alla Vash-MargitaBMJ Case Reports CP Feb 2023, 16 (2) e251017; DOI: 10.1136/bcr-2022-251017
- Delayed finding of congenital duodenal obstruction following congenital diaphragmatic hernia repairGeorge S Bethell, Dina Fouad, Enitan Ogundipe, Mohammed ChoudhryBMJ Case Reports CP Jan 2023, 16 (1) e253394; DOI: 10.1136/bcr-2022-253394
- Growth hormone deficiency in a case of septo-optic-dysplasia due to SOX2 mutation: should we re-test patients during the transition period?Valentina Gasco, Patrizia Matarazzo, Luisa De Sanctis, Ezio GhigoBMJ Case Reports CP Dec 2022, 15 (12) e251897; DOI: 10.1136/bcr-2022-251897
- Aicardi-Goutières syndrome (AGS): recurrent fetal cardiomyopathy and pseudo-TORCH syndromeNalinikanta Panigrahy, Shweta Bakhru, Lokesh Lingappa, Dinesh ChirlaBMJ Case Reports CP Dec 2022, 15 (12) e249192; DOI: 10.1136/bcr-2022-249192
- Do renal and cardiac malformations in the fetus signal carnitine palmitoyltransferase II deficiency? A rare lethal fatty acid oxidation defectYee Yin Tan, Wen Yan Nikki Fong, Charmaine Jiahui Chan, Suresh ChandranBMJ Case Reports CP Dec 2022, 15 (12) e251321; DOI: 10.1136/bcr-2022-251321
- Diaphragmatic hernia: an infant in respiratory distressDermot Michael Wildes, Eoin McHugh, Danielle McLaughlin, Barry ScanlanBMJ Case Reports CP Dec 2022, 15 (12) e252194; DOI: 10.1136/bcr-2022-252194
- Use of tissue samples in diagnosing diploid triploid mosaicismOisín Mahon, Áine Fox, Sally Ann Lynch, Katie CunninghamBMJ Case Reports CP Dec 2022, 15 (12) e252779; DOI: 10.1136/bcr-2022-252779
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