• Journal of Chest Surgery
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• v.19 no.2
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• pp.265-272
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• 1986

We operated on 199 patients of VSD from 1976 to April l986. Among them, patients of VSD whose medical records were available were analyzed clinically. Operation on patients of VSD occupied 23.9% of total open heart surgery [832 cases] during those days. Of the 164 patients, 93 patients were male [56.7%]. 71 patients were female [43.3%]. Their age ranged from 6 months to 28 years and the mean age was 9.5 year and 82.2% of the patients were between 2 and 15 year of age. Of the patients, body weight below 10Kg were 19 cases. The most common complaints were frequent URI and DOE. On Kirklin`s anatomical classification, type II defect was most common [60.1%], type I [38.4%], combined type I+II, type III, combined type II+Ill and combined type II+IV in orders. Associated anomaly was found in 66 patients [42.5%>]. Pulmonary stenosis was most commonly associated cardiac anomaly [8.4%] and aortic insufficiency [7.1%], ASD, Lt. SVC and PDA in orders. There were extracardiac anomalies such as polydactyly, cleft palate, hypospadia and congenital aniridia, etc. Relationship between ventricular hypertrophy and defect size and cardiac cath. data was analyzed. The overall mortality was 7.0% [14 cases] and complication rate was 22.5% [35 cases].

• Archives of Craniofacial Surgery
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• v.9 no.1
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• pp.38-40
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• 2008

Purpose: Lymphangioma circumscriptum is a rare, congenital benign hamartous malformation, caused by the saccular dilatation of lymph channels lines by normal, single cell, lymphatic endothelia that present as local eruptions of persistent, grouped, translucent vesicles. The lymphangioma circumscriptum lesions may occur on axillary fold shoulder, neck proximal limbs and buccal mucosa. We reported a rare case of lymphangioma circumscriptum on the scalp. Methods: A 15-year-old girl with a $5{\times}3cm$ sized lymphangioma circumscriptum on scalp was examined. It was defined a boundry by ultrasound. And then, a tissue crescent type expander with 120 cc normal saline was inserted on occipital area for a month. After confirmed safety margin of the excised lymphangioma circumscriptum on frozen biopsy and the scalp flap was elevated and covered with empty space. Results: A histopathologic finding revealed that lymphangioma circumscriptum. During 11 months follow up, no relapse was found. Conclusion: We described a rare case of lymphangioma circumscriptum on scalp. By using a tissue expander and excision, we achieved no recurrence and aesthetically satisfactory outcome.

• Archives of Craniofacial Surgery
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• v.19 no.1
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• pp.79-82
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• 2018

Formation of an ideally-shaped tragus remains one of the most challenging issues during staged tragus reconstruction in microtia patients. The authors describe a new method used to treat a unique case of concha-type microtia in which the 10-year-old male patient had only a portion of pre-existing cartilage at the tragus site. An anomalous skin lump was also present. During the initial stages of the reconstruction, the two-stage Nagata method was used for surgical correction of the microtia. An autologous rib cartilage graft was used to form the ear framework. A temporoparietal fascia flap was also constructed. Remnant skin tags and anomalous cartilage that accompany microtia are usually removed during microtia repair. However, the cartilage and skin lump were preserved during the reconstruction. The skin lump was later used to form a vascularized chondrocutaneous island flap that supplemented the portion of cartilage during tragus formation. The result was a new tragus that was satisfactorily improved in both size and shape. Patients with concha-type microtia may benefit from the use of this new method for tragus formation.

• Archives of Craniofacial Surgery
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• v.20 no.6
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• pp.405-407
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• 2019

Due to the variety in the shape of dysmorphic cartilage, tragus reconstruction is one of the most challenging goals in otoplasty. The authors describe a method to reconstruct a prominent tragus in a simple way suitable for accounting for the size, shape, and location of the remaining ear. We present a case of tragus deformity in an 11-year-old female patient after a previous excision of pretragal skin tags. There was a small remnant of the deeply located dystopic cartilage in a horizontal orientation. The dystopic cartilage was used to reconstruct the tragus using a chondrocutaneous transposition flap. Only a small portion of the pre-existing cartilage was used to create a chondrocutaneous transposition flap that supplemented the portion of cartilage during tragus reconstruction. The result was a new tragus that showed acceptable improvement in shape, location, and projection. Patients with a small portion of pre-existing cartilage near the tragal wall may benefit from the use of this method for tragus reconstruction.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.14 no.1
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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.

• Neonatal Medicine
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• v.17 no.1
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• pp.127-131
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• 2010

Supernumerary derivative (22) syndrome is a rare genomic syndrome. It is characterized by severe mental retardation, microcephaly, failure to thrive, preauricular tag or sinus, ear abnormalities, cleft and/or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects, and genital abnormalities in males. In 99% of the cases, one of the parents is a balanced carrier of a translocation between chromosome 11 and chromosome 22. To date, there have been about 100 case reports of supernumerary derivative (22) syndrome. In most of the cases, supernumerary derivative (22) syndrome was the result of 3:1 meiotic segregation in the maternal 11;22 translocation carrier. We now report a case of 47,XX, + der(22)t(11;22)(q23;q11.2) resulting from 3:1 meiotic segregation of the paternal translocation carrier.

• Clinical and Experimental Pediatrics
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• v.45 no.10
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• pp.1288-1291
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• 2002

Fetal valproate syndrome has been described as a distinctive pattern of minor anomalies of the face and digits. This pattern has not been delineated completely but appears to involve brachycephaly with a high forehead, shallow orbit, ocular hypertelorism, small nose, small mouth, low set posteriorly rotated ears, long overlapping fingers and toes, and hyperconvex fingernail. Cleft palate and congenital heart disease have occasionally been described in babies exposed to valproate during embryogenesis. We report a neonate born from an epileptic mother receiving sodium valproate during pregnancy. This neonate presented with characteristic facial abnormalities, both elbow contractures, and overlapping of right first and second toe, forth and fifth toe, and left first and second toe. This case raises the possibility that these abnormal appearances might be caused by intrauterine valproate exposure.

• Archives of Craniofacial Surgery
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• v.15 no.1
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• pp.22-27
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• 2014

Background: Dermoid cysts of the auricular area are extremely rare. We report on six cases of auricular dermoid and epidermoid cyst, and differentiate dermoid cyst from epidermal cyst along with a review of the literature. Methods: Three cases involved a gradually enlarging mass of the superior and anterior aspect of the helix of their ear. Another two cases were located in the posterior aspect of the ear. Results: During the operation, a tumor was found just under the skin, not fixed mastoid or adjacent cartilage. Histologically, all specimens contained desquamated squamous epithelium and keratin in the lumen. However, two cases of posterior masses showed the presence of adnexal structures and three cases did not. Conclusion: A key in diagnosis of the dermoid cyst is the presence of adnexal structures. If the wall does not bear adnexal structures, the term epidermoid or keratin cyst is applied. Acquired cysts are most commonly of traumatic origin and result from an implantation or downward displacement of an epidermal fragment. Finally, the congenital epidermoid cyst grew at the upper part of the auricle; however, the dermoid cyst grew at the lower and posterior part of the auricle.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.17 no.3
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• pp.214-219
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• 1995

Free grafting of oral mucosa for minor oral reconstruction was first described by Propper in ridge extension surgery. Situation calling for mucosal grafting procedures may relate to periodontal surgery, minor and major preprosthetic surgery, implant surgery, reconstruction in deformity cases after trauma, congenital cleft, gross atrophy and ablative tumor surgery. In the cases of 9 patients with mucosal defect of intraoral or orbital cavity after wide excision of tumor, preprosthetic surgery, and orbitoplasty, full-thickness mucosal graft were used to close a large defect. Four patients received buccal mucosal graft for preprosthetic surgery or orbitoplasty, one patient had benign tumor and the others had malignant tumors located on the palate or upper alveolus. Buccal mucosal graft donor site morbidity and trismus were minimal and healing of surgical defect was satisfactory. So we present the case with review of literatures.

• Archives of Craniofacial Surgery
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• v.20 no.3
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• pp.181-185
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• 2019

Intraosseous hemangioma is a rare, slow-growing, benign tumor of blood vessels. Primary hemangioma of the skull is a benign lesion that may appear as a palpable mass or accidentally detected during image evaluation. Simple radiography is the most commonly used technique to localize a lesion and computed tomography (CT) may help determine the effect of a lesion. We report a case of multifocal intraosseous calvarial hemangioma developed in the subgaleal plane of an elderly male patient. Ultrasonography examination revealed hyperechoic striated septae parallel to the skin and discontinuity of the focal cortex, however, the underlying bone cortex appeared relatively intact. No significant flow is observed on Doppler ultrasonography. Based on these evaluations, the mass was interpreted by a radiologist as a subgaleal lipoma. This case highlights the importance of additional CT examination in a patient presenting with a scalloping sign of the underlying calvarium. Clinicians also should be aware of the possibility of intraosseous calvarial hemangiomas in lesion. Furthermore, the proper choice of congenital vascular malformation term is still quite confusing with misconception present in the literature.