Inherited and Congenital Disorders

All Items

• DOI: 10.12890/2026_007445

  Against all odds: repeated successful pregnancies in two women with unrepaired single-ventricle physiology

  Madina Sugralimova, Karlygash Togyzbayeva, Murat Mukarov, Sandugash Talkhatova, Anara Abbay

• DOI: 10.12890/2026_007317

  Adult-onset levodopa-unresponsive parkinsonism as the presenting feature of aromatic l-amino acid decarboxylase deficiency

  Matthew Spiteri, Russel Tilney, Edith Said, Malcolm Vella

• DOI: 10.12890/2026_007318

  VEXAS syndrome: a multisystem challenge with sweet syndrome and myelodysplastic syndrome

  Ayla Kouli, Miriam Laflouf, Mahmoud Alhamadeh Alswij, Ammar Awad, Ahmad Al-Bitar, Mais Musleh, Heba Jumah

• DOI: 10.12890/2026_007349

  Vaginal agenesis (Mayer-Rokitansky-Kuster-Hauser syndrome) presenting with exertional dyspnoea, fatigue and intermittent palpitations

  Priti Dave, Sakshi Sharma, Manasi Nagarkar, Abhishek Saklecha, Atharva Jagtap

• DOI: 10.12890/2026_007090

  Protracted febrile myalgia syndrome as initial presentation of familial mediterranean fever in a patient of Northern European extraction thought to have ulcerative colitis

  Stephanie Ammari, Daniel Stein, Nawras Ibrahim

• DOI: 10.12890/2026_006547

  Metastatic mixed germ cell tumour in a patient with cryptorchidism and persistent Müllerian duct syndrome

  Hassane Ait Ali, Ayoub Kharkhach, Tariq Bouhout, Badr Serji

• DOI: 10.12890/2026_006137

  First-trimester aortic root replacement in a pregnant woman with previously undiagnosed Marfan syndrome

  Anara Abbay, Talgat Ibrayev, Murat Mukarov, Sandugash Talkhatova, Muradym Murzagaliyev

• DOI: 10.12890/2026_006200

  Looking beyond severe hypertriglyceridemia when diagnosing adult-onset citrullinemia type II

  Thanh-Huong Truong, Ngoc-Thanh Kim, Doan-Loi Do, Minh-Phuong Vu, Mai-Ngoc Thi Nguyen, Hong-An Le, Thanh-Tung Le

• DOI: 10.12890/2025_006042

  Autosomal dominant osteopetrosis – identification of a new mutation

  Isabel Monteiro, Sara Moutinho-Pereira, Uwe Kornak, Liliana Carneiro

• DOI: 10.12890/2025_005869

  Pseudohypoaldosteronism type II: the relevance of a challenging diagnosis

  Daniela Cruz, Inês Pintassilgo