Atypical phenotype of a patient with Bardet-Biedl syndrome type 4.

ABSTRACT:

Background

Bardet-Biedl syndrome (BBS) is a multisystemic disorder characterized by rod-cone dystrophy, truncal obesity, postaxial polydactyly, cognitive impairment, male hypogonadotropic hypogonadism, complex female genitourinary malformations, and renal abnormalities. There is a large clinical and also genetic heterogeneity in BBS. Here, we report a patient with polydactyly, hyperechogenic kidneys increased in size with normal corticomedullary differentiation, anal imperforation, and malformation of genitals with presence of a genital tubercle with ventral urethral meatus associated with two unfused lateral genital swelling and absent urethral folds, in the context of 46, XY karyotype.

Methods

Karyotype and solo exome sequencing were performed to look for a genetic etiolog

SUBMITTER: Sloboda N 

PROVIDER: S-EPMC9034675 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature