PDF(Pubmed)
Abstract：
BACKGROUND: Coffin-Siris Syndrome (CSS) is a rare genetic disorder of unknown etiology. It combines digital-ungual abnormalities, facial dysmorphism, developmental and intellectual delay, and other organ-system abnormalities. Oral and dental anomalies are rarer.
METHODS: 8-year-old boy with clinical diagnosis of CSS presented facial dysmorphism, sparse hair, a flat and wide nose, absence of nails on 3rd and 5th fingers of the right hand and 3rd and 4th fingers of the left hand, malformation of the feet, toes with nail hypoplasia. Oral and dental anomalies included : bilateral complete cleft lip and palate, delayed eruption of permanent teeth, presence of supernumerary tooth and taurodontism in the first permanent molars.
CONCLUSIONS: Early diagnosis of oral problems and regular follow-up in dentist are necessary to promote good oral health and improve the patient\'s quality of life.
METHODS: 8-year-old boy with clinical diagnosis of CSS presented facial dysmorphism, sparse hair, a flat and wide nose, absence of nails on 3rd and 5th fingers of the right hand and 3rd and 4th fingers of the left hand, malformation of the feet, toes with nail hypoplasia. Oral and dental anomalies included : bilateral complete cleft lip and palate, delayed eruption of permanent teeth, presence of supernumerary tooth and taurodontism in the first permanent molars.
CONCLUSIONS: Early diagnosis of oral problems and regular follow-up in dentist are necessary to promote good oral health and improve the patient\'s quality of life.
摘要：
背景：Coffin-Siris综合征（CSS）是一种病因不明的罕见遗传性疾病。它结合了数字指甲异常，面部畸形,发育和智力延迟，和其他器官系统异常。口腔和牙齿异常更为罕见。
方法：临床诊断为CSS的8岁男孩表现为面部畸形，稀疏的头发，扁平而宽阔的鼻子，右手的第三和第五手指以及左手的第三和第四手指上没有指甲，脚的畸形,指甲发育不全的脚趾。口腔和牙齿异常包括：双侧完全性唇腭裂，恒牙的延迟萌出，在第一个恒磨牙中存在多余的牙齿和牛磺酸症。
结论：口腔问题的早期诊断和牙医的定期随访对于促进良好的口腔健康和改善患者的生活质量是必要的。
方法：临床诊断为CSS的8岁男孩表现为面部畸形，稀疏的头发，扁平而宽阔的鼻子，右手的第三和第五手指以及左手的第三和第四手指上没有指甲，脚的畸形,指甲发育不全的脚趾。口腔和牙齿异常包括：双侧完全性唇腭裂，恒牙的延迟萌出，在第一个恒磨牙中存在多余的牙齿和牛磺酸症。
结论：口腔问题的早期诊断和牙医的定期随访对于促进良好的口腔健康和改善患者的生活质量是必要的。
