• 대한소아치과학회지
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• 제34권4호
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• pp.672-678
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• 2007

Single Median Maxillary Central Incisor(SMMCI)는 상악 중절치 형성부전으로 하나의 상악 중절치가 정중앙에 위치하는 치아 발달의 해부학적 이상을 의미한다. 50,000명 중에 1명 꼴로 발생할 정도로 아주 드물며 각종 증후군 및 정중선 이형성을 보이는 발달장애와 연관되어 나타나는 것으로 보고되고 있다. SMMCI는 다른 이상과 연계되지 않고 독립적으로 나타날 수도 있으나 상염색체 우성유전인 전전뇌증(holoprosencephaly)의 경미한 발현일 가능성이 있으므로 유전자 상담이 필요하다. 또 특징적인 안모 및 구강 상태를 보이므로 환아의 바람직한 신체적, 정서적 발달을 위해 조기에 교정적 접근이 필요하다. 본 증례는 다른 이상 소견을 보이지 않는 세 명의 SMMCI 환아의 증례를 보고하는 바이다.

• Archives of Plastic Surgery
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• 제34권4호
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• pp.528-530
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• 2007

Purpose: Holoprosencephaly(HPE) is a rare developmental defect due to incomplete cleavages of the prosencephalon during the third week of fetal development. Chromosomal anomalies, genetic syndrome, teratogen, or genetic disorder of non-syndromic HPE are usually accepted as etiology. The consequences of prechordal mesoderm defect are varying degrees of deficit of midline facial development, especially the median nasal process(premaxilla), and incomplete morphogenesis of the forebrain. We experienced a case of lobar HPE with complete cleft lip and palate. Methods: A female newborn infant was born at $38^{+6}$ weeks' gestational age via NSVD. The infant's birth weight was 3.6 kg, height 52 cm, and head circumference 32.5 cm, showing microcephaly, flat nose, median complete cleft lip & palate, and hypotelorism, along with defects of midfacial development including losses of premaxilla, philtrum, nasal septum, and columella. Results: There were no specific findings noted from the head and neck X-ray and tests for endocrine and metabolic disorders, but clinical characteristics of midface and dysgenesis corpus callosum on brain MRI were seen, so that this case was diagnosed with HPE. Conclusion: HPE is divided into three categories of alobar, semilobar, and lobar prosencephaly according to the degree of cerebral hemisphere separation. Assesment of patient's brain abnormality and malformation is essential in determining the extent and benefit of surgical intervention. This case was included in the lobar type HPE which shows relatively good prognosis compared with other types and reconstruction of median complete cleft lip & palate and midfacial defects will be performed.