• 대한두개안면성형외과학회지
• /
• 제15권2호
• /
• pp.105-108
• /
• 2014

A 14-month-old child was diagnosed with a Veau Class II cleft palate. Von Langenbeck palatoplasty was performed for the right palate, and V-Y pushback palatoplasty was performed for the left palate. The child did not have a special problem during the surgery, and the authors were able to elongate the cleft by 10 mm. Contrary to preoperative concerns regarding the hybrid use of palatoplasties, the uvula and midline incisions remained balanced in the middle. The authors named this combination method "half-and-half palatoplasty" and plan to conduct a long-term follow up study as a potential solution that minimizes the complications of palatoplasty.

• Journal of Chest Surgery
• /
• 제21권4호
• /
• pp.711-715
• /
• 1988

Pulmonary arteriovenous fistula is a congenital vascular malformation originated from abnormalities of capillary development. Fistulas may develop only in the lung or may be associated with similar abnormalities of the skin, mucous membrane, and the other organs. It may occur with hereditary hemorrhagic telangietasia[Rendu-Osier-Weber syndrome]. Recently we have experienced a case of the pulmonary arteriovenous fistula associated with Schwannoma in 20 year old male man. Tennis ball sized bright reddish mass which was composed of variable sized vascular channels filled with blood clots was located in the just subpleural portion of left lower lobe. Left lower lobectomy was done. Microscopic findings showed variable sized numerous blood vessels embedding in the parenchyma. There was a thumb-tip sized brown nodular mass which was turned out to be Schwannoma at the left 7th thoracic paravertebral area.

• 대한두개안면성형외과학회지
• /
• 제20권5호
• /
• pp.329-331
• /
• 2019

Telecanthus is a common symptom accompanied by Waardenburg syndrome, a rare genetic disorder. The optimal surgery for telecanthus correction is still debated. A 28-year-old patient with Waardenburg syndrome underwent transnasal wiring canthopexy using a Y-V epicanthoplasty for telecanthus correction. A Mini-Monoka stent was used to prevent damage to the lacrimal apparatus. The intercanthal distance decreased from 50 mm to 43.2 mm. The easily designed Y-V epicanthoplasty incision provides sufficient operative field for oblique transnasal wiring, which is effective in properly positioning the medial canthal tendon. It has minimal scarring resulting in satisfactory cosmetic outcomes.

• Perinatology
• /
• 제29권4호
• /
• pp.185-188
• /
• 2018

Jarcho-Levin syndrome is a congenital disorder characterized by several vertebral and costal anomalies. Other abnormalities have also been described, including neural tube defects, Arnold-Chiari malformation, renal/urinary tract abnormalities, hydrocephalus, hydroureteronephrosis, and meningomyelocele. We describe a spondylocostal dysplasia form of Jarcho-Levin syndrome that was prenatally diagnosed at 11 weeks of gestation and surviving. Although the patient had sporadic-type Jarcho-Levin syndrome, with normal karyotype and no family history of disease, the assessment of inheritance patterns and genetic counseling for the parents was important to inform them about the potential risks.

• Childhood Kidney Diseases
• /
• 제28권1호
• /
• pp.1-7
• /
• 2024

Antenatally diagnosed urinary tract dilatation (UTD), previously referred to as antenatal hydronephrosis, is the most commonly detected abnormality by prenatal ultrasonography. Several grading systems have been developed for the classification of antenatal UTD using prenatal and postnatal ultrasonography. UTD comprises a wide variety of congenital abnormalities of the kidney and urinary tract ranging from transient UTD to more significant abnormalities such as vesicoureteral reflux, ureteropelvic junction obstruction, ureterocele, ureterovesical junction obstruction, posterior urethral valves, and non-refluxing megaureter. Optimizing the evaluation of antenatally detected UTD is essential to recognize children with important disorders while avoiding excessive investigations. Conservative approach with close follow-up is increasingly accepted as an appropriate treatment option for patients with asymptomatic vesicoureteral reflux and ureteropelvic junction obstruction in recent years. However, predicting permanent kidney damage in an unselected group of children with antenatal UTD is still challenging. The management and follow-up of children with UTD should be individualized based on recommendations from a pediatric nephrologist, a pediatric urologist, or both. Future research directed at predicting long-term outcomes of children diagnosed with UTD from mild findings to severe disease is needed to refine management for those at higher risk of kidney disease progression.

• 한국수의병리학회:학술대회논문집
• /
• 한국수의병리학회 2002년도 추계학술대회초록집
• /
• pp.134-134
• /
• 2002

A stillborn bovine male fetus with abdominal distention, arthrogryposis and atresia ani was presented for diagnostic evaluation. At necropsy, this fetus had a large amount of ascites, urachal obstruction and marked bladder distention. The ventral surface of the bladder had ruptured and attached to the abdominal wall by fibrinous adhesions. There was bilateral hydronephrosis with moderate pelvic dilatation and cortical attenuation. The rectum was filled with meconium but the anus was imperforate. The right forelimb was contracted. The cause(s) of these abnormalities could not be determined; however, we believe that developmental abnormalities during embryogenesis may be the result of chromosomal abnormalities. This report is the first to report congenital urachal obstruction in this species.

• Neonatal Medicine
• /
• 제17권1호
• /
• pp.127-131
• /
• 2010

저자들은 저긴장증과 다발성 선천성 기형을 보인 신생아에서 염색체 검사 및 FISH로 확인된, 부계의 균형적 전좌에 의한 Emanuel 증후군 1례를 경험하였기에 문헌고찰과 함께 보고하는 바이다.

• Clinical and Experimental Pediatrics
• /
• 제53권7호
• /
• pp.729-734
• /
• 2010

Congenital anomalies of the kidney and urinary tract (CAKUT) account for more than 50% of abdominal masses found in neonates and involve about 0.5% of all pregnancies. CAKUT has a major role in renal failure, and increasing evidence suggests that certain abnormalities predispose to the development of hypertension and cardiovascular disease in adulthood. To understand the pathogenesis of human renal anomalies, understanding the development of kidney is important. Diverse anomalies of the kidney corresponding to defects at a particular stage of development have been documented recently; however, more research is required to understand the molecular networks underlying kidney development, and such an investigation will provide a clue to the therapeutic intervention for CAKUT.

• Journal of Chest Surgery
• /
• 제27권11호
• /
• pp.965-969
• /
• 1994

Infantile lobar emphysema is a pulmonary hyperinflation state that has the clinical features of an air block syndrome characterized by bronchial cartilaginous abnormalities or unknown origin. Left upper lobe was affected in most of the reported infantile lobar emphysema. Infantile lobar emphyema is divided into two categories. e.g., congenital and acquired. We have experienced a case of left lower lobe involved infantile lobar emphysema which had undergone left pneumonectomy. She had progressive signs of tension accompanied by mediastinal displacement, ventilatory and circulatory failure in infant period. Because of the combined left upper lobe hypoplasia, left pneumonectomy was performed. And there was no cartiliginous abnormality in pathologic finding. This is the first domestic case which was affected in the lower lobe and successful surgical repaired.

• Clinical and Experimental Pediatrics
• /
• 제46권3호
• /
• pp.291-294
• /
• 2003

21번 환 염색체는 심한 기형에서부터 정상에 이르기까지 다양한 표현형을 보인다. 저자들은 발달 지연과 다발성 선천성 기형을 가진 환자에서 말초혈액 염색체 검사상 21번 염색체 장완의 결실이 동반된 21번 환 염색체를 경험하였기에 이에 문헌 고찰과 함께 보고하는 바이다.