engleski

BARDET-BIEDL SYNDROME, TYPE 6

Thirtheen years ago we reported (Canki-Klain et al. Clin Genet 1991:40:135-6) on one unrelated healthy young Slovene couple whose first premature female infant born at 33 gestation had vaginal and urethral atresia, primary unrecognized polycystic kidneys, bilateral hydronephrosis and a rudimentary extra digit on the left hand. This child died at the age of 15 weeks because of urosepsis. Subsequent two pregnancies have been monitored by ultrasound that has detected the existence of bilateral polycystic kidneys at 24 and 21 weeks' gestation, respectively. The parents decided to terminate both pregnancies. The first fetus, a male, had postaxial polydactily on hands and feet, atrial septal defect and large polycystic kidneys. The second fetus had in addition to polydactyly and polycystic kidneys hydrometrocolpos. The presence of polydactyly together with urethral and vaginal atresia in two girls and congenital heart defect in male infant associated with hexadactyly oriented us to diagnosis of McKusick-Kaufman syndrome. Disturbing symptom in all affected siblings were polycystic kidneys, that was explained at time either as association of two independent recessives genes in the family or as a rare part of the syndrome. Recent evidence that the McKusick-Kaufman syndrome is caused by mutation in the same gene on chromosome 20p12(MIM *604b896) encoding a protein with similarity to members of the chaperonin family and the fact that mutations in the same gene causes Bardet-Biedel syndrome, type 6(BBS6) oriented the author to the latter diagnosis.

Bardet-Biedl syndrome; type 6; genetics; patomorphology; clinics

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