Abstract
Laurence Moon Bardet Biedl syndrome is characterized by retinitis pigmentosa, obesity, mental retardation, Polydactyly and hypogenitalism. A seven-year -old boy was referred to the pediatric department because mental retardation. He had been operated because aganglionic megacolon and lateral extra digits on 15 months old. Physical examination showed obesity, mental retardation, hypogenitalism and left undescended testes. Oph-thalmoscopy revealed retinitis pigmentosa. Periodic follow-up was begun and genetic counselling was advised to family. The case was discussed according to the literature.
Laurence Moon Bardet Biedl sendromu otozomal resesif geçişli, polidaktili, higogenitalizm, obesite, görme bozukluğu ve mental retardasyon ile karakterize bir sendromdur. Nadir rastlanması nedeniyle aganglionik megakolon anomalisi görülen Laurence Moon Bardet Biedl Sendromlu bir vakayı sunduk. Yedi yaşındaki erkek çocuk onbeş aylıkken konjenital aganglionik megakolon nedeniyle öpere edilmişti. Fizik muayenede; obesite, mental retardasyon, hipogenitalizm, sol inmemiş testis ve her iki ayakta öpere edilmiş la¬teral polidaktiliye ait skar dokusu bulundu. Oflalmoskopik muayenede retinitis pigmen¬tosa saptandı. Hasta periyodik takibe alınarak aileye genetik danışma verildi. Vaka lite¬ratür ışığında tartışıldı.
Keywords
Details
| Primary Language | English |
|---|---|
| Journal Section | Basic Medical Sciences |
| Authors | |
| Publication Date | December 23, 2009 |
| Submission Date | December 12, 2009 |
| Published in Issue | Year 1995 Volume: 12 Issue: 2 |
Cite
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.