Prenatal Diagnosis of Recurrent Alkuraya-Kučinskas Syndrome: A Rare Case Report
Journal of Clinical Ultrasound, 2026 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Basım Tarihi: 2026
- Doi Numarası: 10.1002/jcu.70315
- Dergi Adı: Journal of Clinical Ultrasound
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CINAHL, EMBASE, MEDLINE, Natural Science Collection (ProQuest), Biological Science Database (ProQuest), Biomedical Reference Collection: Corporate Edition (EBSCO), Health Research Premium Collection (ProQuest), Materials Science & Engineering Collection (ProQuest), Technology Collection (ProQuest)
- Anahtar Kelimeler: Alkuraya-Ku & ccaron;inskas syndrome, arthrogryposis, BLTP1, consanguinity, cystic hygroma, KIAA1109, prenatal diagnosis, recurrent genetic disorder
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Alkuraya-Kučinskas syndrome (AKS) is a rare autosomal recessive disorder characterized by severe brain malformations, arthrogryposis, and multiple system abnormalities. We present a case of recurrent AKS in a 24-year-old woman with consanguineous marriage history who previously had one pregnancy terminated due to AKS. First-trimester ultrasound revealed cystic hygroma and limb contractures. Chorionic villus sampling (CVS) confirmed homozygosity for the BLTP1 gene variant c.13042C>T p.(Arg4348Ter), consistent with AKS. After genetic counseling, the pregnancy was terminated; postmortem examination and genetic analysis of fetal tissue reconfirmed the diagnosis. This case highlights the importance of early prenatal diagnosis in recurrent genetic disorders, demonstrates the ultrasonographic features enabling first-trimester detection, and underscores the value of comprehensive preconception genetic counseling in consanguineous families with a history of genetic disorders.