• Maxillofacial Plastic and Reconstructive Surgery
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• 제12권1호
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• pp.127-134
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• 1990

본인은 본교실에서 치험한 악골내 발생된 각화성 낭종들중 다발성인 경우에 이상의 증례에서 동반된 이상소견을 의도적으로 조사해 봄으로써, 악골계를 담당하는 의사로서 악골내에서 다발성 낭종이 발견될 때 NBCCS을 간과해서는 안됨을 느끼게 된다. 또한 이상의 증례에서는 확연한 가족력을 찾아볼 수는 없었으나 이 증후군 자체가 상염색체 우성유전으로 인자전달이 잘 되는 것이므로 세심한 주의와 계속적인 관찰이 요하리라 생각된다.

• Maxillofacial Plastic and Reconstructive Surgery
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• 제30권2호
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• pp.172-177
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• 2008

Basal cell nevus syndrome, also known as Gorlin-Goltz syndrome, is a hereditary condition transmitted as an autosomal dominant trait that exhibits high penetrance and variable expressivity. It is an ecto-mesodermal polydysplasia with numerous manifestations that affect multiple organs. Odontogenic keratocysts, palmar and plantar pits, and hypertelorism are the most frequently observed anomalies. Currently there are new lines of investigation based on biomolecular studies, which aim at identifying the molecules responsible for these cysts and thus early allowing an early diagnosis of these patients. We report two cases of multiple odontogenic keratocysts associated with basal cell nevus syndrome.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• 제26권3호
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• pp.305-309
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• 2000

The basal cell nevus syndrome is a well recognized entity, the major symptoms of which are basal cell nevi, multiple jaw cysts, skeletal anomalies, and ectopic calcification. The syndrome follows a hereditary pattern, which is characterized by a highly penetrant, autosomal dominant gene with multiple and variable effects. The patient often has a characteristic face, with frontal and temporoparietal bossing, which results in an increased cranial circumference. The eyes may appear widely separated, and 40 percent of patients have true ocular hypertelorism. Jaw cysts are one of the most constant features of the syndrome and are present in at least 75 percent of the patients. The cysts are odontogenic keratocysts and frequently multiple. Radiographically, the cysts in patients with basal cell nevus syndrome do not differ significantly from isolated keratocysts. The cysts in patients with this syndrome are often associated with the crowns of unerupted teeth; on radiographs they may mimic dentigerous cysts. We report a case of multiple odontogenic keratocysts associated with basal cell nevus syndrome with the literature of review.

• 한국동물생명공학회지
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• 제34권3호
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• pp.253-258
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• 2019

A female English bulldog was gave birth two neonates by cesarean section on the sixty one days after mating, but both neonates were died soon after birth. The bodies of neonates were diagnosed using radiography, ultrasonography, computed tomography and necropsy immediately after death. Both neonates had caudal regression syndrome, butterfly vertebra, hydrocephalus, umbilical hernia, cleft palate and bow-legged hind-limb. At necropsy, neonates had mild fetal anasarca, cleft lip and the skull was remained non-union. At thoracic cavity, only three ribs and thoracic spines were existed and patent ductus arteriosus was found. At abnormal cavity, the renal ectopia was found with abnormal morphology. In the present case, those English bulldog neonates with multiple congenital malformation syndromes seriously suffered vertebral column anomalies and that may induced by neural tube defects in during embryonic period. To prevent congenital malformation occurring in English bulldog, further in depth studies are needed for the breed specific genetic diversity and for the reason of behind genetic abnormality in these breed.

• Clinical and Experimental Pediatrics
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• 제54권11호
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• pp.429-435
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• 2011

Although Korean population has been growing steadily during the past four decades, the nation is rapidly becoming an aging society because of its declining birth rate combined with an increasing life expectancy. In addition, Korea has one of the lowest fertility rates in the world due to fewer married couples, advanced maternal age, and falling birth rate. The prevalence of low birth weight infants and multiple births has been increased compared with the decrease in the birth rate. Moreover, the number of congenital anomalies is expected to increase due to the advanced maternal age. In addition, the number of interracial children is expected to increase due to the rise in the number of international marriages. However, the maternal education level is high, single-mother birth rate is low, and the gender imbalance has lessened. The number of overweight babies has been decreased, as more pregnant women are receiving adequate prenatal care. Compared to the Asian average birth weight, the average birth weight is the highest in Asia. Moreover, the rate of low birth weight infants is low, and infant mortality is similarly low across Asia. Using birth data from Statistics Korea and studies of birth outcomes in Korea and abroad, this study aimed to assess the changes in maternal and infant characteristics associated with birth outcomes during the past four decades and identify necessary information infrastructures to study countermeasures the decrease in birth rate and increase in low birth weight infants in Korea.

• Archives of Plastic Surgery
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• 제33권2호
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• pp.241-244
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• 2006

Idiopathic scrotal calcinosis is rare entity, characterized by the presence of multiple, firm nodules within the dermis of scrotal skin. The lesions are evident as asymptomatic, round, firm, yellowish papules, from several millimeters up to 1 cm in diameter, with a tendency to occur symmetrically. Because polypoid formation of the calcified cysts is unusual in scrotal calcinosis, we report our experience of a case of scrotal calcinosis with cysts having polypoid appearence. A 34-year-old man was admitted to our department with painless, firm, widespread nodules within the scrotum. Patient started to have these lesions at puberty and progressed to a polypoid form over time. There was neither surgical nor medical treatment had been attempted before our treatment. Physical examination revealed localized polypoid cysts in addition to multiple small, firm nodules within the scrotal skin. No underlying anomalies were detected in the physical examination and laboratory analysis. We experienced the treatment of polypoid idiopathic scrotal calcinosis and a case is presented with the review of literatures.

• 대한유전성대사질환학회지
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• 제14권1호
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• pp.48-53
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• 2014

Smith-Lemli-Opitz syndrome (SLO) is a rare, autosomal recessive disease caused by an inborn error in cholesterol synthesis. Patients with this disease suffer from multiple malformations due to reduced activity of 7-dehydrocholesterol reductase (DHCR7), which increases 7-dehydrocholesterol (7DHC) and 8-dehydrocholesterol (8DHC) concentrations and decreases cholesterol concentration in body fluids and tissue. Here, we describe Korean siblings with SLO who were diagnosed recently, and performed a review of literature about Korean cases with SLO to date. Microcephaly and syndactyly of the second and third toes are the most common physical finding in SLOS patients. Other malformations including growth failure, cleft palate or bifid uvula, various heart malformation, genital ambiguity in males are also accompanied. Not all patients showed low levels of serum cholesterol, so DHCR7 mutation analysis can be helpful to confirmative diagnosis. Two mutations on p.R352 locus (p.R352W and p.R352Q) are commonly identified in Korean SLO patients. Although rare in Korea, SLO should be considered in the differential diagnosis of growth failure with intellectual disability, especially in patients with multiple congenital anomalies.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제17권4호
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• pp.257-262
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• 2014

Severe combined immunodeficiency (SCID) is a life-threatening syndrome of recurrent infections and gastro-intestinal alterations due to severe compromise of T cells and B cells. Clinically, most patients present symptoms before the age of 3 months and without intervention SCID usually results in severe infections and death by the age of 2 years. Its association with intestinal anomalies as multiple intestinal atresias (MIA) is rare and worsens the prognosis, resulting lethal. We describe the case of a four year-old boy with SCID-MIA. He presented at birth with meconium peritonitis, multiple ileal atresias and underwent several intestinal resections. A targeted Sanger sequencing revealed a homozygous 4-bp deletion ($c.313{\Delta}TATC$; p.Y105fs) in tetratricopeptide repeat domain 7A (TTC7A). He experienced surgical procedures including resection and stricturoplasty. Despite parenteral nutrition-associated liver disease, the patient is surviving at the time of writing the report. Precocious immune system assessment, scrutiny of TTC7A mutations and prompt surgical procedures are crucial in the management.

• Journal of Yeungnam Medical Science
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• 제20권1호
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• pp.71-78
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• 2003

일측성 폐동맥 형성부전증은 대동맥궁의 발생과정상의 이상으로 인해 대부분 선천성 심질환과 동반되어 나타나며, 일부에서 단독으로 발생한다. 흉부 전산화단층촬영, 자기공명영상과 같은 비침습적인 검사로 확진이 가능하며, 동반질환이 없는 일측성 폐동맥 형성부전증은 대게 치료가 필요없다. 저자들은 반복되는 객혈을 주소로 내원한 젊은 여자에서 객혈의 원인규명 과정에서 진단된 좌폐동맥 형성부전증 1예을 경험하였기에 문헌고찰과 함께 보고하는 바이다.

• Clinical and Experimental Pediatrics
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• 제52권6호
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• pp.701-704
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• 2009

Smith-Magenis 증후군(SMS)은 17번 염색체에서 유전물질을 향유한 곳이 일부 떨어져 나가면서 생기는 질환으로, 신체, 발달 및 행동상의 특징적 이상이 나타나는 질환이다. 출생빈도는 출생아 25,000명 중에 한 명 꼴로 출생하는 것으로 알려져 있으나 최근 분자유전학적 진단 기술의 발달로 이 질환의 환자수가 점차 증가되고 있다. 다양한 임상증상과 더불어 수면장애, 경련에 대한 치료뿐만 아니라 적절한 언어, 행동학적 치료가 필요하다. 저자들은 SMS 환아 2예를 진단하고 치료하고 있는 경험이 있어 이를 보고하는 바이다.