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

• Journal of Chest Surgery
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• 제32권10호
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• pp.966-969
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• 1999

Congenital defects of the sternum are rare development anomalies. They result form the failure of the lateral sternal bars to fuse. This malformation may be associated with other ventral midline fusion defects and ectopia cordis. A complete sternal cleft is the rarest form and less than 10 cases have been reported in the medical literature. Here were report a 3-day-old boy with complete sternal cleft without other malformations, who underwent primary surgical repair. Surgical correction of complete sternal cleft should be performed in neonatal period whether the infant if symptomatic or not because it is usually simple, able to achieve good result and primary repair is usually feasible at this period.

• 대한정형외과학회지
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• 제53권6호
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• pp.530-539
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• 2018

목적: 족부에 발생한 선천성 축후성 다지증에 자기공명영상 검사를 실시하여 그 결과에 대해 평가하고자 한다. 대상 및 방법: 족부에 발생한 선천성 축후증 다지증 및 다지합지증으로 수술을 시행받은 347예(288명)에 대하여 단순 방사선 사진상에 나타나는 변형이 시작되는 부위에 따라 다섯 개의 군으로 분류하였다(넓은 중족골두, 이분중족, 유합된 복제, 불완전 복제, 완전복제 군). 골화가 이루어지지 않아 단순 방사선 사진상 나타나지 않는 부위에 대하여 자기공명영상 검사를 실시하여 유합 혹은 분리여부를 확인하였다. 또한 단순 방사선 사진상 지골 형성이 되지 않은 것처럼 보이는 부분에 대해서도 자기공명영상 검사를 실시하였다. 결과: 단순 방사선 사진상 골화가 이루어지지 않은 부분에 있어서 자기공명영상 검사를 실시하여 보니 잉여지와 고유지 간 유합 혹은 분리되는 양상이 다양하게 관찰되었다. 또한 지골 형성이 이루어지지 않은 듯 보이는 부분에 대해서도 지골의 상태를 효과적으로 알 수 있게 하였다. 결론: 족부에 발생한 선천성 축후성 다지증에 실시하는 자기공명영상 검사는 단순 방사선 사진에서 확인되지 않는 부분에 대한 정확한 해부학적 상태를 알려줄 수 있는 유용한 장치로 사용될 수 있다.

• 대한기관식도과학회:학술대회논문집
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• 대한기관식도과학회 1981년도 제15차 학술대회연제순서 및 초록
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• pp.41.1-41
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• 1981

기부지절유합증과 선천성등골고정증의 병발은 상염색체우성유전을 하는 드문 질환으로시 현재까지 수예가 보고되어 있다. 환자는 11세의 여자로서 출생후부터의 양측성 난청을 주소로 1980년 12월 내원하였다. 고막소견과 측두골 X-선소견은 양측 정상이었으며 양측 제 4,5수지의 기부지절유합증이 있었고 다른 관절 부위는 정상이었다. 우측에 Exploratory tympanotomy를 실시한 결과 등골족판의 fixation이 발견되어 Stapedectomy를 실시하였으며 그 결과 5dB평 골기도 격차를 보이는 수평형의 정상범위내의 청력증진을 보였다.

• 대한족부족관절학회지
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• 제3권1호
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• pp.53-57
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• 1999

Polydactyly is the most common congenital deformity of the foot. The authors present an unusal case of polydactyly of the foot in an otherwise healthy adult male. The patient has an mixed type of polydactyly composed of polysyndactyly of the first toe, Y shaped second metatarsal and polysyndactyly with the fusion to the forth toe of the fifth toe. Meticulous. preoperative plan was prepared and performed at the operation. Main procedures were as follows : 1) Excision of extradigit of first toe and first metatarsocuneiform joint fusion. 2) Excision of lateral bud of second metatarsal and plantar-medial osteotomy of the medial bud. 3) Metatarsal head resection arthroplasty of third & forth metatarsophalangeal joint and 4) Excision of medial polydactyly of the fifth toe and syndactyly release and split thickness skin graft. Postoperatively, The forefoot width was reduced from 11.5 to 9.5cm and the pain was relieved.

• Molecules and Cells
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• 제19권1호
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• pp.131-136
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• 2005

The ETV6-NTRK3 gene fusion, first identified in the chromosomal translocation in congenital fibrosarcoma, encodes a chimeric protein tyrosine kinase with potent transforming activity. ETV6-NTRK3-dependent transformation involves the joint action of NTRK3 signaling pathways, and aberrant cell cycle progression resulting from activation of Mek1 and Akt. The level of glutathione (GSH) was found to be markedly increased in ETV6-NTRK3-transformed NIH3T3 cells. The activities of the two GSH biosynthetic enzymes as well as of glutathione peroxidase, together with their mRNAs, were also higher in the transformed cells. The transformed cells were able to grow in the presence of GSH-depleting agents, whereas the control cells were not. L-Buthionine-(S,R)-sulfoximine (BSO) inhibited activation of Mek1 and Akt in the transformed NIH3T3 cells. These observations imply that up-regulation of GSH biosynthesis plays a central role in ETV6-NTRK3-induced transformation.

• Journal of Chest Surgery
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• 제16권1호
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• pp.127-130
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• 1983

Esophageal atresia and Tracheoesophageal fistula may occur as separate entities but usually occur in combination. First described by Durston in 1970, esophageal atresia was not successfully treated until 1939 when the first two survivors of staged correction were described by Ladd and Leven. In 1941, Haight and Towsley performed the first successful primary repair. Authors report four cases of esophageal atresia of which two cases were treated surgically in success with Haight`s method. The type of four cases were all the same as upper blind pouch and lower tracheoesphageal fistula. Two of them were associated with verterbral defect, imperforate anus and/or rib fusion. Two cases died within seven days due to parent`s refusal for operative therapy, others were treated surgically with Haight`s method. Operative patients tolerated all the operative procedure and recovered uneventfully, permitted feeding on 7th postoperative day. On follow up study, one patient revealed intermittent regurgitation and corrected with bougienation another with good health without complication.

• Journal of Korean Neurosurgical Society
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• 제42권2호
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• pp.145-148
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• 2007

Klippel-Feil Syndrome (KFS) is a complex congenital syndrome of osseous and visceral anomalies. It is mainly associated with multi-level cervical spine fusion with hypermobile normal segments. Therefore, a patient with KFS can be at risk of severe neurological symptoms even after a minor trauma. We report a patient with type III KFS who developed a hemiparesis after a minor trauma and was successfully managed with operation.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• 제33권4호
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• pp.297-306
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• 2007

Distraction osteogenesis was pioneered by Ilizarov in the treatment of injured extremities. Its subsequent application to Oral and Maxillofacial Surgery has opened a new chapter in the treatment of facial deformity. Careful monitoring of the period of distraction and consolidation of the callus is important and has been well described. Complications, such as infection, haematoma and premature ossification, are difficult to diagnose and can compromise the outcome after the surgery. Too slow rate of distraction results in premature fusion of cortices and too rapid information of bone 'cyst' within the callus distraction. I experienced 2 patients of congenital unilateral mandibular hypoplasia, so called Hemifacial Microsomia. After distraction surgery, I evaluated callus formation of mandibular distraction with Ultrasound Sonography during distraction and consolidation period. Plain radiography, although it enables accurate measurement of the distraction gap, did not give sufficient detail to allow assessment of early stages of bone formation, But, ultrasound monitoring could enable continuous monitoring of the distraction gap without exposure to ionizing radiation and allow detection of fine detail, which may influence manipulation of the callus.

• 대한수의학회지
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• 제39권5호
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• pp.961-964
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• 1999

A six-month-old, male mongrel dog presented with wet ventral abdominal skin hairs and a short prepuce with penis. In physical examination, the penis was underdeveloped with fusion failure of the prepuce and the urethral opening was in the transitional area between os penis and perineal region. The radiological shape of urinary bladder was normal in positive contrast cystography and there was no any other routes except the observed urethral opening. Cryptochidism was also shown. It was diagnosed as hypospadia. Treatment included castration and resection of remnants of the prepuce and penis.