• Journal of the Korean Arthroscopy Society
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• v.1 no.1
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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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• v.51 no.9
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• pp.1018-1022
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• 2008

Testicular adrenal rest tumors are a well-known complication in male patients with congenital adrenal hyperplasia. Corticosteroid suppressive therapy usually results in the regression of these tumors. We describe a patient with 21-hydroxylase deficiency who developed bilateral testicular masses. Despite steroid suppressive therapy, the tumors did not regress and hormonal control was poor. Consequently, bilateral partial orchiectomies were performed.

• Journal of Korean Foot and Ankle Society
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• v.9 no.2
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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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• v.12 no.2
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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.

• Korean Journal of Cleft Lip And Palate
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• v.4 no.2
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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.

• Journal of The Korean Dental Society of Anesthesiology
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• v.2 no.1 s.2
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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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• v.33 no.2
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• pp.133-138
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• 2006

Female phenotype of a 46,XY male may originates from male pseudohermaphroditism due to $17{\alpha}$-hydroxylase deficiency. Lack of cortisol increases adrenocorticotropic hormone (ACTH) and mineralocorticoid production, leading to low renin hypertention and hypokalemia. A 41-year-old phenotypic female presented primary amenorrhea and hypertension. In the hormonal profile, the levels of serum estradiol, testosterone, rennin, and cortisol were decreased and ACTH and deoxycorticosterone were increased. Laparoscopic bilateral gonadectomy was performed, and corticosteroid, antihypertensive drugs, and estrogen were administered. We report this case with a brief review of the literatures.