Congenital disorders

Cerebrocostomandibular syndrome: a diagnostic challenge
Alison Conlon, Evangelia Fragkouli, Ailbhe Tarrant, Michael A Boyle

BMJ Case Reports CP May 2024, 17 (5) e258108; DOI: 10.1136/bcr-2023-258108
Previously undiagnosed genetic disease in adult patient with hepatic masses and reported history of congenital hyperinsulinism
Jacob Kuzy, Yochitha Pulipati, Thomas Robertson

BMJ Case Reports CP May 2024, 17 (5) e259355; DOI: 10.1136/bcr-2023-259355
Congenital cystic neck mass of thymic origin
Zohour Awadh Almalki, Hussain Alsheef, Farah Salman Alnemari, Sarah Owaidh Aljuaid

BMJ Case Reports CP May 2024, 17 (5) e256136; DOI: 10.1136/bcr-2023-256136
Retinal abnormalities in a patient with cutis marmorata telangiectatica congenita
Kenzo Hokazono, Ana Bárbara Dias Lopes Urzedo, Paula Basso Dias, Natália Assumpção Lima Dias

BMJ Case Reports CP May 2024, 17 (5) e257810; DOI: 10.1136/bcr-2023-257810
Congenital glottic stenosis as a clinical manifestation of FREM1-associated disorders in a neonate with respiratory distress and aphonia
Kayla Dahlquist, Taylor Meyers, John Paul Schacht, Rebecca Hicks

BMJ Case Reports CP May 2024, 17 (5) e257133; DOI: 10.1136/bcr-2023-257133
Congenital pterygium with anterior segment dysgenesis: rare ocular manifestation in Rubinstein-Taybi syndrome
Dewang Angmo, Tanmay Thulkar, Ekta Shaw, Nitika Beri

BMJ Case Reports CP Apr 2024, 17 (4) e257962; DOI: 10.1136/bcr-2023-257962
Endobronchial lesion in a premature neonate
Zakhar Shchomak, Lia Oliveira, Ana Saianda, Teresa Bandeira

BMJ Case Reports CP Mar 2024, 17 (3) e259839; DOI: 10.1136/bcr-2024-259839
Congenital midline upper lip sinus in an infant
Avilash Sahu, Santosh Kumar Mahalik, Tara Prasad Tripathy

BMJ Case Reports CP Mar 2024, 17 (3) e259869; DOI: 10.1136/bcr-2024-259869
Presentation and multidisciplinary management of a unique case of lower limb dysmelia resulting from amniotic band syndrome
Katherine Radcliffe, Kajal Gohil, James D Bedford

BMJ Case Reports CP Mar 2024, 17 (3) e258063; DOI: 10.1136/bcr-2023-258063
Klippel-Trenaunay syndrome or not? An exploration of atypical presentations
Lakmali Anthony, Iman Bayat

BMJ Case Reports CP Mar 2024, 17 (3) e259763; DOI: 10.1136/bcr-2024-259763

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Congenital disorders

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