Neonatal Hydrocolpos in Bardet-Biedl Syndrome due to a Novel Frameshift Indel in the BBS10 Gene
Pediatric urologists should maintain a high index of suspicion for underlying genetic conditions, including BBS, in neonates presenting with hydrocolpos, given the potential for more severe associated complications such as renal and retinal diseases, obesity, and polydactyly.
Authors
- Berenice B. Mendonça (ORCID: https://orcid.org/0000-0003-1762-1084)
- E. Q. Barreto (ORCID: https://orcid.org/0000-0001-5426-9433)
- Sorahia Domenice (ORCID: https://orcid.org/0000-0002-4883-7630)
- Anna Benedetti (ORCID: https://orcid.org/0000-0002-5802-6882)
- Maria Helena Palma Sircili (ORCID: https://orcid.org/0000-0001-6698-598X)
- Rafael Loch Batista (ORCID: https://orcid.org/0000-0002-5461-0301)
- Francisco Tibor Dénes (ORCID: https://orcid.org/0000-0003-2445-187X)
- Flora Ladeira Craveiro (ORCID: https://orcid.org/0000-0003-1085-5689)
- Marcelo Praxedes Monteiro Filho
- Solange Paiva Bueno
- Raquel Matinez Ramos
Institutions
- Hospital Estadual Mário Covas (BR)
- Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (BR)
Publication Details
- Journal
- Sexual Development
- Published
- 2024-09-09
- DOI
- https://doi.org/10.1159/000541137
- Citations
- 1
- Primary Topic
- Genetic and Kidney Cyst Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.55