Fraser syndrome: A new case
Ali Karaman, Bilge Geçkinli, Hatip AydınIstanbul Zeynep Kamil Women and Children Diseases Education and Research Hospital, Medical Genetics ClinicFraser syndrome is characterized by cryptophthalmos, cutaneous syndactyly, malformations of the larynx and genitourinary tract, craniofacial dysmorphism, orofacial clefting, mental retardation, and musculoskeletal anomalies. Fraser syndrome is a rare, autosomal recessive condition. Herein, we report a case of a two day old infant with Fraser syndrome.
Keywords: Fraser syndrome, cryptophthalmia, infantFraser sendromu: Yeni bir olgu
Ali Karaman, Bilge Geçkinli, Hatip Aydınİstanbul Zeynep Kamil Kadın ve Çocuk Hastalıkları Eğitim ve Araştırma Hastanesi, Medikal Genetik KliniğiFraser sendromu kriptoftalmus, kutanöz sindaktili, larinks ve genitouriner bölge malformasyonları, kraniyofasiyal dismorfizm, orofasiyal yarık, mental gerilik ve kas-iskelet sistemi anomalileri ile karakterizedir. Fraser sendromu nadir, otozomal resesif bir durumdur. Bu belgede, Fraser sendromlu iki günlük bir yeni doğanı rapor ettik.
Anahtar Kelimeler: Fraser sendromu, kriptoftalmi, yenidoğanAli Karaman, Bilge Geçkinli, Hatip Aydın. Fraser syndrome: A new case. . 2014; 29(1): 60-61
Corresponding Author: Ali Karaman, Türkiye
Corresponding Author: Ali Karaman, Türkiye
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