Pierre Robin Syndrome ini Sister and Brother |
B.Y. Lee1, S.H. Park1, K.H. Ko1, H.Y. Chung2, W.B. Lee2, H.J. Sohn3, H.Y. Choi3 |
1Department of Pediatrics, Yonsei University College of Medicine 2Department of Pediatrics, Korea Hospital 3Department of Pathology, Yonsei University College of Medicine |
男妹에서 본 Pierre Robin Syndrome |
李 炳 爆1, 朴 商 厚1, 高 克 勳1, 鄭昰泳2, 李源柄2, 孫照俊3, 崔 弘恱3 |
1延世大學校 醫科大學 小兒科學敎室 2高麗病院 産婦人科 3延世大學校 醫科大學 病理學敎室 |
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Abstract |
Two cases of Pierre Robin syndrome, which appeared in sister and brother, are reported. The first case was a girl who showed characteristic pictures of Pierre Robin syndrome, characterized by micrognathia, glossoptosis and cleft palate at birth. There had been dyspnea with feeding difficulties since birth but improved by supportive treatment only. The second case was a boy, who was born as a subsequent baby from the same mother, and revealed also typical picture. He expired 20 hours later and autopsy was performed. Mandibular growth was markedly impaired resulting glossoptosis. Mild coarctation of aorta was found with Meckefs diverticulum. A brief review of literature was done.
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