PRIMARY AMENORRHEA AND KABUKI SYNDROME
Introduction: Kabuki Syndrome (KS) has been reported in all ethnicities with an estimated prevalence of 1:32,000 to 1:86,000. Diagnosing and managing Kabuki Syndrome is quite difficult. Its management depends on the presenting manifestations and therefore requires multidisciplinary collaboration. Case: A 24-year-old woman came to the hospital complaining of an enlarged abdomen and abdominal pain. In the anamnesis, information was obtained that at birth, atresia ani was found, surgery was performed when she was 2 weeks old.
Authors
- Sri Ratna Dwiningsih (ORCID: https://orcid.org/0000-0002-3952-2020)
- Jimmy Yanuar Annas (ORCID: https://orcid.org/0000-0002-3589-4177)
- Ashon Sa’adi (ORCID: https://orcid.org/0000-0003-2682-3139)
- Maya Devi Arifiandi
- Gatut Hardianto (ORCID: https://orcid.org/0000-0002-5922-5349)
- Hendy Hendarto (ORCID: https://orcid.org/0000-0001-5551-2028)
- Boya Nugraha (ORCID: https://orcid.org/0000-0002-5547-3169)
- M.Y. Ardianta
Institutions
- Universitas Airlangga (ID)
Publication Details
- Journal
- Cuestiones de Fisioterapia
- Published
- 2025-02-19
- DOI
- https://doi.org/10.48047/1h960379
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00