Open AccessHydrometrocolpos and postaxial polydactyly in a girl newborn: A case report
Author(s) -
Day Morgan L.,
Avila Crystal C.,
Novak Dawn L.
Publication year - 2022
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.5453
Subject(s) - polydactyly , medicine , ciliopathy , differential diagnosis , girl , pediatrics , bardet–biedl syndrome , abdomen , anatomy , pathology , genetics , phenotype , biology , gene
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.