1.
Clin Case Rep
; 10(2): e05453, 2022 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35223016
RESUMO
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.