• 대한관절경학회지
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• 제1권1호
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• pp.108-111
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• 1997

Congenital deficiency of the anterior cruciate ligament (ACL) is a rare disorder that has been reported in association with other knee dysplasia like as congenital knee dislocation. congenital short femur, congenital absence of menisci, congenital ring meniscus, and thrombocytopenia-absent radius syndrome. There has been no published explanation about the etiology of bilaeral ACL deficiencies without other abnomality. The patient of congenital ACL deficiency must be carefully inspected about combined anomaly. Those efforts may be helful in treatment or ACL deficient patients and evaluation of pathophysiology or ACL deficiency. However there has not been a ruptured congenital deficiency of the ACL without other dysplasia or the knee and other congenital skeletal abnomalities. We reported a case of symptomatic bilateral congenital deficiencies of the ACL which have not been associated with other skeletal abnormalities.

• Clinical and Experimental Pediatrics
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• 제51권9호
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• pp.1018-1022
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• 2008

선천 부신 과다형성 환자에서 고환 부신 잔류 종양은 흔하게 발생한다. 대개 이 종양은 적절한 corticosteroid 억제 치료로 호전될 수 있다. 저자들은 양측성 고환 부신 잔류 종양을 보인 21-hydroxylase 결핍증 환아에게서 corticosteroid를 투여하였으나 반응하지 않아 고환 적출술을 시행한 사례를 경험하였기에 보고하는 바이다.

• 대한족부족관절학회지
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• 제9권2호
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• pp.231-233
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• 2005

Ball-and-socket deformity of the ankle joint is a rare entity that is usually associated with inequality of leg length, fibular hyperplasia, coalition of the ankle, and ray deficiency. Etiology is unknown, congenital itself or secondary to congenital conditions in the ankle. Nonunion of medial malleolar is rare in bilateral ball and socket ankle joint without lower leg deformity. We report upon this case, and include brief reviwe of the literature.

• Journal of Genetic Medicine
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• 제12권2호
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• pp.123-127
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• 2015

Distal limb deformities are congenital malformations with phenotypic variability and high genetic heterogeneity. Split hand/foot malformation, also known as ectrodactyly, is a congenital limb malformation characterized by a defect of the central rays of the hands and/or feet. Split hand/foot malformation with long-bone deficiency (SHFLD) is a rare condition related to a 17p13.3 duplication. Recently, genomic duplications encompassing BHLHA9 have been associated with SHFLD. We report a case of SHFLD presenting with campomelia of the right femur, bilateral agenesis of fibulae, bilateral club feet, and oligosyndactyly of the hands and feet, that was associated with a 17p13.3 duplication, as determined prenatally using array comparative genomic hybridization.

• 대한구순구개열학회지
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• 제4권2호
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• pp.51-68
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• 2001

Midfacial hypoplasia in patients with clefts of the lip and palate is considered to be the result of congenital dysmorphogenesis. And cleft lip and palate developes facial deformity, jaw abnormality, speech problem, which is most frequent hereditary deformity in maxillofacial region. So cleft lip and palate is characterized by midface deformity which shaws maxillary anterior nasal septal deviation and deformity. Our study describes congenital correlates of midfacial hypoplasia by examining the displacement of a normal complement of parts, a triangular tissue deficiency low on the lip border on the columellar side, and a linear deficiency and displacement in the line of the bilateral cleft lip. 15 patients with bilateral cleft lip and palate were taken impression before operation, but the patient who had other abnormalities and complications were excluded. Average age is 3.4 months and they were classified into both complete, both incomplete and complete & incomplete group. The obtained results were as follows 1. There were no differences on intercanthal width and canthal width between each of the groups. 2. Both complete group had longer lateral ala length than both incomplete group, but there were no differences between both complete group and complete side of com. & incom. group and both incomplete group and incomplete side of com. & incom. group. 3. Columella length was greater in both incomplete group than in both complete group, but there was no difference between both complete group and complete side of com. & incom. group and both incomplete group and incomplete side of com. & incom. group. 4. Both complete group had longer ala width & ala base width than both incomplete group had. But there were no differences between both complete group and complete side of com. & incom. group and both incomplete group and incomplete side of com. & incom. group. 5. There were no differences between each of the groups on upper lip length, but nose/mouth width ratio was greater in both complete group than in both incomplete group. 6. Pronasale(pm), subnasle(sn), la~rale superioris(ls), stomion(sto) points were located around the central vertical line of face but deviated to incomplete side in com. & incom. group. 7. Nasal tip protrusion was greater in both incomplete group and com. & incom. group than both complete group, but there was no difference between both incomplete group and com. & incom. group.

• 대한치과마취과학회지
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• 제2권1호
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• pp.27-32
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• 2002

Hemophilia A is the most common congenital bleeding disorder, which is sex-linked disease, caused by a deficiency of clotting factor VIII. We experienced a case of alveolorrhaphy using iliac bone graft under general anesthesia for the correction of bilateral cleft alveolus in 10-year-old boy with hemophilia A. Factor VIII activity in this patient was 0.7%, on the severely deficient level, and aPTT was 100 seconds. Just before operation, he received 1,750 units of factor VIII intravenously for loading dose. After we confirmed his factor VIII activity improved to 95% and aPTT to 38.4 seconds, operation was begun. No more transfusion was needed during the operation. In his postoperative care, he received 50 units/kg a 12 hours for 3 days and 30 units/kg a 12 days for 2 days. His factor VIII activity was maintained at 57-139% during his hospitalization. He was discharged without any anesthetic complication. So we report this successful case of anesthetic management for the oral surgery in a child with hemophilia A.

• Clinical and Experimental Reproductive Medicine
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• 제33권2호
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• pp.133-138
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• 2006

46,XY 핵형인 남성에게서 $17{\alpha}$-hydroxylase의 결핍이 있을 경우 성호르몬의 생성장애로 인해 남성가성반음양에 의한 여성 표현형을 보이게 된다. 코티졸이 결핍되면 부신피질자극호르몬의 증가 및 이로 인한 광불무신피질호르몬의 합성이 증가되어 저레닌성 고혈압, 저칼륨혈증이 발생한다. 41세 된 여자 환자가 원발성 무월경과 고혈압을 주소로 내원하였다. 46,XY 핵형을 보였으며, 호르몬 검사상, 혈중 에스트라디올, 테스토스테론, 레닌, 코티졸이 감소되어 있으며 부신피질자극호르몬 및 deoxycorticosterone이 증가되어 있어 $17{\alpha}$-hydroxylase 결핍에 의한 남성가성반음양으로 진단되었다. 이 질환의 치료로 복강경을 이용한 양측 고환적출술을 시행하였고, 부신피질호르몬과 항고혈압 재제, 에스트로젠을 투여하였다. 본 연구에서는 위 증례에 대하여 간단한 문헌고찰과 함께 보고하는 바이다.