Fiche publication
Date publication
mars 2022
Journal
Molecular genetics & genomic medicine
Auteurs
Membres identifiés du Cancéropôle Est :
Pr PHILIPPE Christophe
,
Dr BONNET Céline
Tous les auteurs :
Sloboda N, Lambert L, Ciorna V, Bruel AL, Tran Mau-Them F, Gomola V, Lemelle JL, Klein O, Camoin-Schweitzer MC, Magnavacca M, Legagneur C, Ezsto ML, Bonnet C, Philippe C, Leheup B
Lien Pubmed
Résumé
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.
Mots clés
Bardet-Biedl syndrome, anal imperforation, genital anomalies, sex assignment
Référence
Mol Genet Genomic Med. 2022 Mar 23;:e1869
