Inherited and Congenital Disorders

All Items

• DOI: 10.12890/2024_004749

  One haemolytic anaemia may hide another: Paroxysmal nocturnal haemoglobinuria masquerading as Plasmodium falciparum infection

  Alexandre-Raphael Wery, Coline Mortier, Quentin Cabrera, Mohamadou Niang, Moumini Kone, Sarah Permal

• DOI: 10.12890/2024_004738

  A successful laparoscopic appendectomy for an adult male patient with osteogenesis imperfecta

  Mohamed I. Farid, Azza Baz , Mohamed Emad El-Dein Hemdan, Taghreed Abdelhamid, Diyaa Ebrahim, Fadl Fayed, Emad Abdel-Haleem

• DOI: 10.12890/2024_004545

  Parachute mitral valve and mid-aortic syndrome – unusual associations of Alagille syndrome

  Geeta Bhagia, Nasir Hussain, Fnu Arty, Puneet Bansal, Robert Biederman

• DOI: 10.12890/2024_004421

  Lung underdevelopment: case reports and a literature review

  Ali Al-Tarbsheh, Ramez Halaseh, Veronica Williams, Kaila Schultz, Nydia Martinez

• DOI: 10.12890/2023_004047

  Incidentally diagnosed large asymptomatic Morgagni hernia in adult male patient

  Shqipe Misimi, Arben Shurlani, Andrej Nikolovski

• DOI: 10.12890/2023_003962

  Angina pectoris as a manifestation of ALCAPA syndrome in a 20-year-old female: a case report and review of literature

  Leila Bigdelu, Ossama Maadarani, Ali Azari, Ali Heidari-Bakavoli, Zouheir Bitar

• DOI: 10.12890/2023_003693

  Remission of hereditary angioedema attacks associated with starting teriflunomide in a patient with multiple sclerosis

  Ana López, Diego Fernández Romero

• DOI: 10.12890/2023_003794

  An 84-year-old patient with Caroli syndrome: what is the prognosis of this condition?

  Fabio Caleça Emidio, Rafaela Costa Pereira, Rosário Blanco, Pedro Santos, Teresa Abegão, Claudia Fitas

• DOI: 10.12890/2023_003764

  Recurrent sepsis in a patient with biliary hamartomas

  Maria Beatriz Santos, Magda Ponta Garça, Bárbara Vieira, Paulo Ávila, Alexandra Freitas

• DOI: 10.12890/2023_003698

  Aortic dissection in a patient with novel frameshift COL5A1 variant of classical Ehlers-Danlos syndrome

  Lídia Caley, Ana Campar, Teresa Mendonça, Fátima Farinha