biostudies-literatureUnknown10(5)Sloboda N<h4>Background</h4>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.<h4>Methods</h4>Karyotype and solo exome sequencing were performed to look for a genetic etiologMolecular genetics & genomic medicinee1869https://www.ebi.ac.uk/biostudies/studies/S-EPMC9034675biostudies-literatureAtypical phenotype of a patient with Bardet-Biedl syndrome type 4.PMC9034675Lambert LLemelle JLGomola VBruel ALSloboda NKlein OBonnet CCiorna VPhilippe CTran Mau-Them FCamoin-Schweitzer MCEzsto MLLegagneur CMagnavacca MLeheup BfalseAtypical phenotype of a patient with Bardet-Biedl syndrome type 4.<h4>Background</h4>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.<h4>Methods</h4>Karyotype and solo exome sequencing were performed to look for a genetic etiolog2022-01-01T00:00:00Z2022 May2025-04-20T03:06:46.958Z2025-04-20T03:06:46.958ZS-EPMC90346753531882410.1002/mgg3.1869