Hydrometrocolpos and postaxial polydactyly in a girl newborn: A case report.
Publication/Presentation Date
2-1-2022
Abstract
This case report is of a 35-week female neonate with a cystic abdominal mass. Physical examination was notable for post-axial polydactyly, distended abdomen, and abnormal urethral opening. Differential diagnosis includes Bardet-Biedl Syndrome (BBS), an autosomal recessive ciliopathy. Genetic panel revealed she was a carrier for a BBS mutation.
Volume
10
Issue
2
First Page
05453
Last Page
05453
ISSN
2050-0904
Published In/Presented At
Day, M. L., Avila, C. C., & Novak, D. L. (2022). Hydrometrocolpos and postaxial polydactyly in a girl newborn: A case report. Clinical case reports, 10(2), e05453. https://doi.org/10.1002/ccr3.5453
Disciplines
Medicine and Health Sciences | Pediatrics
PubMedID
35223016
Department(s)
Department of Pediatrics
Document Type
Article
COinS