Meltem UĞRAŞ, Ebru BULDU, Tolga Altuğ ŞEN, Gülay DEMİRCİN, Faruk ALPAY

Laurence Moon Bardet Biedel syndrome: A case report

Laurence Moon Bardet Biedl sendromu obezite, retinitis pigmentoza, hipogonadizm, mental retardasyon ve polidaktili ile karakterize bir hastalıktır. Ana bulgulara ek olarak renal, kardiyak ve nörolojik tutulum da görülebilmektedir. Burada kronik böbrek yetmezliği gelişmiş bir olgu sunulacaktır.

Anahtar Kelimeler:

Laurence Moon Bardet Biedl sendromu, kronik böbrek yetmezliği, çocuk

Laurence Moon Bardet Biedel syndrome: A case report

Laurence Moon Bardet Biedl syndrome is characterized by obesity, retinitis pigmentosa, hypogonadism, mental retardation and polydactyly. Additionally renal, cardiac and neurological manifestations may be seen. We report here a case with the syndrome that also had chronic renal disease.

Keywords:

Laurence Moon Bardet Biedl syndrome, chronic renal disease, child,

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