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Laurence Moon Biedl Syndrome
Esra Önal Sönmez1, Nihal Karatoprak2, Sami Hatipoğlu1, H. Mine Öztürk1, Ela Erdem1, Günsel Kutluk1, Tülay Olgun1, Ahmet Özgüner21Sisli Etfal Education and Research Hospital4. Children's Clinic, Istanbul2Haydarpasa Numune Training and Research Hospital, 1.Children's Clinic, Istanbul
Laurence Moon Biedl syndrome, an autosomal recessive disorder, characterized by retinitis pigmentosa, obesity, polidactyly, hypogonadism and mental retardation. A 5.5 years old male child was admitted to hospital because of pneumonia. During his hospitalization, symtoms of night blindness were detected. Retinitis pigmentosa was determined in his visual examination. He had been operated because of polidactyly
in his infancy. Another 5 years old famale child was taken to our clinic by convulsion. Obesity and polidactyly that are cardinal features of Laurence Moon Biedl syndrome, were
recognized in her physical examination. Careful family history and physical examination alerted us about a genetic disorder. In this study, on the basis of the consannguinity and the familirity of the disorder, we reviewed Laurence Moon Biedl syndrome by discussing these two case reports comparing to the previous published literature.
Keywords: Laurence Moon Biedl Syndrome, obesity, polydactyly, etinitis pigmentosa
Laurence Moon Biedl Sendromu
Esra Önal Sönmez1, Nihal Karatoprak2, Sami Hatipoğlu1, H. Mine Öztürk1, Ela Erdem1, Günsel Kutluk1, Tülay Olgun1, Ahmet Özgüner21Şişli Etfal Eğitim ve Araştırma Hastanesi 4. Çocuk Kliniği, İstanbul2Haydarpaşa Numune Eğitim ve Araştırma Hastanesi 1. Çocuk Kliniği, İstanbul
Anahtar Kelimeler: Laurence Moon Biedl Sendromu, obezite, polidaktili, retinitis pigmentosa
Manuscript Language: Turkish