Helsmoortel-Van der Aa syndrome in a 13-year-old girl with autistic spectrum disorder, dysmorphism, a right solitary kidney, and polycystic ovaries: a case report
Clinical exome analysis indicated an autosomal dominant Helsmoortel-Van der Aa syndrome with a likely pathogenic de novo variant within the activity-dependent neuroprotector homeobox (ADNP) gene not previously reported in Helsmoortel-Van der Aa syndrome. The patient had a right-sided solitary kidney and polycystic ovaries, conditions that were not previously associated with HVDAS.
Authors
- William Davies (ORCID: https://orcid.org/0000-0002-7714-2440)
- Mohammed Al Balwi (ORCID: https://orcid.org/0000-0003-2910-0390)
- Khaled Alenezi
- Wafaa Eyaid (ORCID: https://orcid.org/0000-0003-3442-7136)
- Mohannad Alghamdi (ORCID: https://orcid.org/0000-0001-8649-4205)
- Ebtesam Al‐Enezi
Institutions
- King Saud bin Abdulaziz University for Health Sciences (SA)
- King Abdulaziz Medical City (SA)
- King Abdulaziz Hospital (SA)
- Cardiff University (GB)
Publication Details
- Journal
- Journal of Medical Case Reports
- Published
- 2024-09-05
- DOI
- https://doi.org/10.1186/s13256-024-04746-2
- Citations
- 3
- Primary Topic
- Genetic Syndromes and Imprinting
- Type
- article
- Field-Weighted Citation Impact
- 1.65
Funders
- Medical Research Council