Congenital disorders

Congenital ichthyosis: a multidisciplinary approach in a neonatal care unit
Joana Valente Dias, Kátia Cardoso, Sara Noéme Prado, Hugo Cavaco

BMJ Case Reports CP Feb 2023, 16 (2) e250077; DOI: 10.1136/bcr-2022-250077
Neurocristic cutaneous hamartoma of the scalp with disseminated melanocytic nevi
Haika Mariki, Naomi Mwamanenge, Martha Mkony, Karim Premji Manji

BMJ 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 newborn
Samuel Peter Last, Heather Isabel Patterson, Neil Hauser, Shyan Vijayasekaran

BMJ Case Reports CP Feb 2023, 16 (2) e253750; DOI: 10.1136/bcr-2022-253750
Vaginal bleeding in a newborn as initial presentation of uterus didelphys
Farrah Saleh, Mary Lou Gaeta, Ilona Rost, Alla Vash-Margita

BMJ Case Reports CP Feb 2023, 16 (2) e251017; DOI: 10.1136/bcr-2022-251017
Delayed finding of congenital duodenal obstruction following congenital diaphragmatic hernia repair
George S Bethell, Dina Fouad, Enitan Ogundipe, Mohammed Choudhry

BMJ 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 Ghigo

BMJ Case Reports CP Dec 2022, 15 (12) e251897; DOI: 10.1136/bcr-2022-251897
Aicardi-Goutières syndrome (AGS): recurrent fetal cardiomyopathy and pseudo-TORCH syndrome
Nalinikanta Panigrahy, Shweta Bakhru, Lokesh Lingappa, Dinesh Chirla

BMJ 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 defect
Yee Yin Tan, Wen Yan Nikki Fong, Charmaine Jiahui Chan, Suresh Chandran

BMJ Case Reports CP Dec 2022, 15 (12) e251321; DOI: 10.1136/bcr-2022-251321
Diaphragmatic hernia: an infant in respiratory distress
Dermot Michael Wildes, Eoin McHugh, Danielle McLaughlin, Barry Scanlan

BMJ Case Reports CP Dec 2022, 15 (12) e252194; DOI: 10.1136/bcr-2022-252194
Use of tissue samples in diagnosing diploid triploid mosaicism
Oisín Mahon, Áine Fox, Sally Ann Lynch, Katie Cunningham

BMJ Case Reports CP Dec 2022, 15 (12) e252779; DOI: 10.1136/bcr-2022-252779

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Congenital disorders

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