• 대한유전성대사질환학회지
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• 제14권1호
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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.

• Archives of Plastic Surgery
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• 제49권6호
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• pp.745-749
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• 2022

Background Soft tissue defects of the multiple finger present challenges to reconstruction surgeons. Here, we introduce the use of a lateral arm free flap and syndactylization for the coverage of multiple finger soft tissue defects. Methods This retrospective study was conducted based on reviews of the medical records of 13 patients with multiple soft tissue defects of fingers (n = 33) that underwent temporary syndactylization with a microvascular lateral arm flap for temporary syndactylization from January 2010 to December 2020. Surgical and functional outcomes, times of flap division, complications, and demographic data were analyzed. Results Middle fingers were most frequently affected, followed by ring and index fingers. Mean patient age was 43.58 years. The 13 patients had suffered 10 traumas, 2 thermal burns, and 1 scar contracture. Release of temporary syndactyly was performed 3 to 9 weeks after syndactylization. All flaps survived, but partial necrosis occurred in one patient, who required a local transposition flap after syndactylization release. The mean follow-up was 15.8 months. Conclusion Coverage of multiple finger defects by temporary syndactylization using a free lateral arm flap with subsequent division offers an alternative treatment option.

• Archives of Reconstructive Microsurgery
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• 제21권2호
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• pp.153-158
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• 2012

Purpose: The first web space of the foot has a similar thickness and skin texture of the pulp of the fingers. Moreover, it has a reliable blood vessel and sensory nerve. The purpose of this study was to evaluate the clinical results of the first web space free flap to reconstruct the pulp of fingers. Materials and Methods: Authors have performed 23 cases of first web space free flap to reconstruct the pulp defect of the fingers between June 2004 and May 2009. The age of the patients ranged from 20 years old to 55 years old. The size of the flap ranged from $1{\times}1.5cm$ to $8.5{\times}2.5cm$. The mean flap area was 5.4 cm2. In 4 cases, we elevated the flap including lateral aspect of the big toe and medial aspect of the second toe. And then we made an artificial syndactyly to reconstruct the pulps on two fingers at the same time. In all cases, we performed 1 digital artery and 1 dorsal vein anastomosis. Every donor site that had a small defect healed spontaneously without any additional operations to cover it. Results: Of this type of surgery 21 flaps (91.3%) survived, 2 flaps (8.7%) failed. There was no severe complication in the donor sites. There was no walking disturbance due to the skin defect of the donor site. The static 2 point discrimination in 11 cases that we could check ranged from 3 mm to 15 mm. Conclusion: The authors believe that the first web space free flap of the foot is a good option for the reconstruction of the pulp of the fingers and it has a minimal donor site morbidity.

• 대한족부족관절학회지
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• 제6권1호
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• pp.7-14
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• 2002

Purpose: We investigate the characteristic morphologic features and suggest proper treatment of postaxial polydactyly of the foot Materials and Methods: We analysed 37 cases of postaxial polydactyly. Mean post operative follow up period was 2 years 10 months. We analysed them according to morphological, radiological and operative findings. Patients were classified into extra 5th toe polydactyly and extra 6th toe polydactyly based on the abnormal extradigit, and subdivided into joint origin type, bone origin type and floating type based on duplication pattern. Results: 23 cases were extra 5th toe polydactyly and 14 cases were extra 6th toe polydactyly. Most common types were metatarsophalangeal joint origin type of extra 6th toe polydactyly. Compared with extra 5th toe polydactyly, extra 6th toe polydactyly originated from more proximal part and had not syndactylism. Conclusion: As the duplication level was more distal, degree of syndactylism and nail union was more severe. In case of syndactyly between 5th and 6th toe, abnormal extradigit was 5th toe.

• Archives of Plastic Surgery
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• 제40권3호
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• pp.232-237
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• 2013

Background Polydactyly of the foot is one of the most frequent anomalies of the limbs. However, most classification systems are based solely on morphology and tend to be inaccurate and less relevant to surgical methods and results. The purpose of this study is to present our new classification of polydactyly of the foot, which can serve as a predictor of treatment and prognosis. Methods To find a correlation between the various morphologic traits of polydactyly of the foot and the treatment plan and outcomes, we reviewed 532 cases of polydactyly of the foot in 431 patients treated in our hospital, expanding on our previous study that described polydactyly based on the importance of metatarsal bone status and varus deformity. The records of patients were evaluated and compared with previous studies at other centers. Results Unsatisfactory results were seen in 36 cases, which included 5 cases of incomplete separation due to syndactylism, 23 cases of axis deviation, and 8 cases of remnants of extradigit metatarsal bones. The locus of the polydactyly, or the digit which was involved, did not seem to affect the final postoperative outcomes in our study. Three factors-syndactylism, axis deviation, and metatarsal extension-are the major factors related to treatment strategy and prognosis. Therefore, we developed a new classification system using three characters (S, A, M) followed by three groups (0, 1, 2), to describe the complexity of polydactyly of the foot, such as $S_1A_2M_2$. Conclusions Our new classification could provide a communicable description to help determine the surgical plan and predict outcomes.

• Journal of Genetic Medicine
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• 제8권2호
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• pp.130-134
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• 2011

Saethre-Chotzen 증후군은 상염색체 우성의 유전 방식을 보이는 두개골유합증후군(craniosynostosis)의 하나로, 원인 유전자는 TWIST1로 알려져 있다. Saethre-Chotzen 증후군의 임상 증상은 두개골유합증 중에서도 특히 관상봉합(coronal suture)이 편측 혹은 양측으로 조기에 폐쇄되는 것이 특징적이며, 이외에도 안검하수, 낮게 위치한 귀, 청력 소실, 손발가락의 기형 등 다양한 이상이 동반될 수 있다. 저자들은 양측성 관상봉합 두개골유합증과 특징적인 얼굴 모습, 다양한 동반 기형을 보인 두 명의 환자에서 TWIST1 유전자의 원인 돌연변이를 각각 확인하고 Saethre-Chotzen 증후군을 확진하였기에, 국내에서 처음으로 보고하는 바이다. 특히, TWIST1 유전자 분석은 관상봉합 유합증을 보이는 환자에서 질환을 확진하고, 및 환자와 가족에 대한 적절한 유전 상담을 제공하는데 유용한 검사로 생각된다.

• Archives of Plastic Surgery
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• 제32권5호
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• pp.607-612
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• 2005

A traditional tie-over dressing may be applied to support the take of a skin graft. Although there are many advantage of this method, it has significant disadvantages, including time-consuming application. Furthermore, when the dressing is changed, the gauze becomes hard and can be stuck to the graft, causing damage and pain upon removal. The purpose of our study is to evaluate the effect of semi-occlusive dressing using polyurethane foam and film dressing($Allevyn^{(R)}$, $Opsite^{(R)}$) after full thickness skin graft. The authors treated 45 cases including burn scar contracture(n=38), syndactyly (n=1), absence of nipple-areolar complex(n=4), traumatic skin defect(n=1) and contact burn(n=1) with authors' method and 39 patients including burn scar contracture (n=39) with the tie-over dressing between 2000 and 2004. The patients in polyurethane foam and film dressing group ranged from 1 to 62 years of age (mean age, 15.1 years) and the patients in tie-over dressing group ranged from 2 to 60 years of age(mean age, 21.3 years). The postoperative results were analyzed according to the following measures: (1) the duration of graft-taking, (2) the admission period, (3) complications. Compared with the traditional tie-over dressing, polyurethane foam and film dressing was shown to be more successful in a reduced duration of graft-taking, in which was similar to the former in the rate of graft-taking, a reduced admission period and patient's discomfort. We concluded that semi-occlusive dressing using $Allevyn^{(R)}$ and $Opsite^{(R)}$ was an effective method after full thickness skin graft, which was easy to shape to difficult body locations, such as web spaces, fingers and maintains a moist environment for wound healing and does not stick to the wound.

• Archives of Plastic Surgery
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• 제36권5호
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• pp.642-648
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• 2009

Purpose: Hexadactyly without thumb is a rare congenital anomaly of the hand where six triphalangeal digits are symmetrically distributed without thumb. Contrary to mirror hands, triphalangeal six digits are symmetrically distributed on each side at the midline with well - differentiated carpal bones, extensor tendons, one ulnar and one radius. The authors developed a new surgical technique based on a three - dimensional concept to correct the hexadactyly and applied to 2 cases of hexadactyly with good functional and aesthetic results. Here we document the surgical technique and its result. Methods: A 16 month old male patient visited our clinic with chief complaints of bilateral hexadactyly deformity. On physical examination most radial first and second digits showed no opposition and adduction motion on both side hands. Radiography showed 6 triphalangeal digits with normal development of carpal, radial and ulnar bone. Right side abnormality was corrected by removal of most radial side extra - digit, rotation and migration of 2nd ray to thumb position and creation of 1st web by transposing a mid - palm based rectangular palmar flap as in Snow & Littler procedure which has been being applied for correction of 1st web syndactyly in cleft hand deformity. Seven months later, left side abnormality was also corrected with the same procedure. Results: Postoperative appearances of the both hands were satisfactory. Flexion, extension, opposition and grasping were possible with the pollicized 2nd ray. Pinching power was 3.0 kg 15 months after surgery and 2.5 kg 22 months after in right hand respectively. Conclusion: In correction of hexadactyly deformity, satisfactory aesthetic and relevant functional results can be expected with authors' newly developed technique: removal of most radial digit, rotation and migration of 2nd digit to thumb position as well as creation of the 1st web space by transposition of mid - palm based rectangular flap.

• Journal of Genetic Medicine
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• 제7권2호
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• pp.151-155
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• 2010

Apert 증후군은 두부와 손발의 골 및 연부조직의 성장장애로 인해 발생하는 선천적 질환으로 두개골의 기형과 사지의 대칭적 합지증을 특징으로 하는 드문 질환이다. Apert증후군은 변이된 FGFR2 유전자에 의해 발생한다고 알려져 있으며 세계적으로 S252W 돌연변이가 가장 흔하고, P253R돌연변이는 드물게 보고되고 있다. 국내에서는 엑손IIIa에서 S252W 돌연변이가 보고된 경우가 있다. 본 증례에서는 두 개 봉합선의 조기 융합으로 인한 두부의 특징적인 기형, 손과 발의 심한 합지증을 동반하는 전형적인 Apert 증후군 영아에서 FGFR2 유전자의 8번째 엑손부위에서의 P253R 돌연변이가 확인되었기에 보고하는 바이다. 향후 유전자-표현자형의 대한 연구, 발생 기전 및 치료와 관련한 분자 생물학적 연구가 더 필요할 것으로 사료된다.

• 대한소아치과학회지
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• 제29권1호
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• pp.44-50
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• 2002

Apert syndrome은 첨두합지증(acrocephalosyndactly)중의 하나로, 1906년 Apert에 의해 보고된 증후군이며 관상봉합의 조기유합에 의한 첨두증(acrocephaly)과 합지증이 공존하는 선천성 유전 질환이다. 임상적으로 뾰족한 고깔모양의 머리 형태를 하고 있으며, 손과 발이 합지증을 보이는 것이 가장 특징적이다. 상염색체 우성의 유전을 하며 중안면부의 발육부전으로 인한 안구돌출 경도의 양안이개 및 상악골 발육부전을 나타내고, 고구개, 연구개열을 동반하는 경우가 있으며, 하악 발육은 정상이나 상대적으로 하악 전돌의 양상을 나타내고 좁은 상악과 하악궁에 심한 총생이 나타나고, 골격적 이상에 의한 부정 교합과, 전방부의 개교를 유발한다. 본 증례는 성형외과에서 상악과 하악에 대한 교정적 처치의 가능성에 대하여 의뢰된 3세 1개월의 Apert syndrome 남아에 대한 것으로 의학적 기왕력과 향후 치과적 처치방향에 대해 과거의 문헌을 고찰하고, 교정적 진단과 치료계획의 수립과정 중에 다소의 지견을 얻었기에 이에 대해 보고하는 바이다.