• 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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• 제32권6호
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• pp.773-776
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• 2005

An unusual case is presented as bilateral, complete digital duplication of the hand in a 32-year-old man. Radiographic evaluation showed complete duplication of intact phalanges and metacarpal bones in both hands. Although polydactyly of the hand is reported to occur among approximately 1 in 1000 live births, most of these malformations are rudimentary skin tags. Complete postaxial polydactyly is uncommon; it occurs in approximately 0.014% of all live births. The main goal of the surgical treatment is to establish adequate function and appearance. This case reports the preoperative evaluation and management of bilateral postaxial type III duplication of the fingers.

• 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.

• Imaging Science in Dentistry
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• 제41권4호
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• pp.167-170
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• 2011

Ellis-van Creveld syndrome is a rare congenital genetic disorder having autosomal recessive inheritance. It is a syndrome affecting the Amish population of Pennsylvania in USA with prevalence rate of 1/5,000 live at birth. In non-Amish population, the birth prevalence is 7/1,000,000. The syndrome is characterized by bilateral postaxial polydactyly of the hands, chondrodysplasia of long bones resulting in acromesomelic dwarfism, ectodermal dysplasia affecting nails as well as teeth and congenital heart malformation. There were very rare reports of this syndrome in dentistry. The present case focuses on the striking and constant oral findings of these patients, which are the main diagnostic features of this syndrome. Since the oral manifestations affect the esthetic, speech, and jaw growth of the child, the dentists have an important role to play in proper management of such case.

• Journal of Genetic Medicine
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• 제11권1호
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• pp.31-35
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• 2014

Bardet-Biedl syndrome (BBS) is a rare ciliopathy generally inherited with an autosomal recessive pattern. BBS is characterized by 6 primary features namely retinal dystrophy, obesity, postaxial polydactyly, renal dysfunction, learning difficulties, and hypogonadism and a wide range of secondary features. To date, mutations in 16 genes have been identified as causative factors for BBS. Among them, the BBS1 and BBS10 genes are major disease-causing genes, and each of these gene mutations presents in more than 20% of all BBS patients. Genotype-phenotype correlations have not been observed in BBS, and there can be phenotypic overlap between BBS and other ciliopathies. In Korea, no molecular, genetically confirmed case of BBS has been reported to date. Herein, we describe the case of the first Korean siblings with BBS resulting from 2 BBS10 gene mutations who showed typical clinical phenotypes, including retinal dystrophy, obesity, intellectual disability, cystic tubular disease, and postaxial polydactyly.

• 대한족부족관절학회지
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• 제5권2호
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• pp.120-128
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• 2001

Purpose: This study was undertaken to review the precise morphological patter'ns of polydactyly of the foot and to evaluate outcomes of surgical interventions. Materials and Methods: The records of patients who had polydactyly of foot from 1983 to 2000 were reviewed retrospectively. 29 duplicated toes(24 patients) were analyzed. All cases were evaluated and classified with Temtamy and McKusick's axial pattern, Watanabe's morphologic pattern and level of duplication. Clinical evaluation was performed according to Phelps and Grogan's. Mean age at surgery was 5.7 years(range: 10 months$\sim21$ years). All the patients were subsequently evaluated during mean 17 months(range: 13 months-$\sim5$ years). Results: Preaxial polydactyly was seen in 3 cases, central polydactyly in 3 cases, postaxial polydactyly in 22 cases and remaining 1 case was multiple my involvement. Only 2 patients have familial history and the most common associated anomaly was hand deformity(20.8%). Clinical results were excellent in 14 cases, good in 5 cases, poor in one. 17 patients(70%) were operated before 6 years olds and they had better results than those of who were operated after 6 years olds. Conclusion: The Method of surgical correction for the polydactyly should be individualized by its morphological pattern because the purpose of operation was to give comfort in wearing shoes and patient's psychological relief. This study showed that polydactyly of the foot could be corrected surgically with good results in most cases, and the better results would be achieved if the operation is performed before preschool age according to its individualized pattern of duplication.

• Journal of Genetic Medicine
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• 제10권1호
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• pp.57-61
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• 2013

Acromegaloid Facial Appearance syndrome is a very rare syndrome combining acromegaloid-like facial appearance, thickened lips and oral mucosa and acral enlargement. Progressive facial dysmorphism is characterized by a coarse facies, a long bulbous nose, high-arched eyebrows, and thickening of the lips, oral mucosa leading to exaggerated rugae and frenula, furrowed tongue and narrow palpebral fissures. We report a case of acromegaloid facial appearance syndrome in a 19-year-old male patient who presented with all the characteristic features of the syndrome along with previously unreported anomalies like dystrophic nails, postaxial polydactyly and incisal notching of teeth.

• Archives of Plastic Surgery
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• 제48권1호
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• pp.91-97
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• 2021

Background In postaxial polysyndactyly of the foot, the choice of which toe to excise is controversial. It is often treated by resection of the fifth toe to save the lateral neurovascular bundles of the sixth toe. However, the sixth toe is often short and laterally deviated, which may require wedge osteotomy, potentially shortening the phalanx and compromising circulation. This study outlines an individualized method to spare the length and axis of the fifth toe in polysyndactyly with a short and deviated sixth toe. Methods We retrospectively analyzed 38 patients who underwent surgery between 2006 and 2019. The fifth toe was spared in 18 cases, and the sixth toe in 20 cases. The ratios of the forefoot width, angle difference, and toe length were compared between the affected and unaffected sides postoperatively. Complications and subjective judgments on cosmetic results were recorded and compared. Results No significant between-group differences were observed for sex, age at surgery, or the follow-up period. The forefoot width ratio did not significantly differ between the groups. However, the angle difference and toe length ratios showed significantly better results in the fifth toe-spared group than in the sixth toe-spared group (P<0.05 and P<0.01, respectively). There were no cases of impaired circulation, and subjective evaluations revealed satisfactory results in the fifth toe-spared group. Conclusions In cases with short and deviated sixth toes, sparing the fifth toe is an effective method of cosmetic treatment. The surgical results were satisfactory, with an improved appearance and no residual deformities.

• Clinical and Experimental Pediatrics
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• 제54권5호
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• pp.219-223
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• 2011

McKusick-Kaufman syndrome (MKS) is an autosomal recessive multiple malformation syndrome characterized by hydrometrocolpos (HMC) and postaxial polydactyly (PAP). We report a case of a female child with MKS who was transferred to the neonatal intensive care unit of Seoul National University Children's Hospital on her 15th day of life for further evaluation and management of an abdominal cystic mass. She underwent abdominal sonography, magnetic resonance imaging, genitography and cystoscopy which confirmed HMC with a transverse vaginal septum. X-rays of the hand and foot showed bony fusion of the left third and fourth metacarpal bones, right fourth dysplastic metacarpal bone and phalanx, right PAP and hypoplastic left foot with left fourth and fifth dysplastic metatarsal bones. In addition, she had soft palate cleft, mild hydronephroses of both kidneys, hypoplastic right kidney with ectopic location and mild rotation, uterine didelphys with transverse vaginal septum and low-type imperforated anus. She was temporarily treated with ultrasound-guided transurethral aspiration of the HMC. Our patient with HMC and PAP was diagnosed with MKS because she has two typical abnormality of MKS and she has no definite complications of retinal disease, learning disability, obesity and renal failure that develop in Bardet-Biedl syndrome, but not in MKS until 33 months of age. Here, we describe a case of a Korean patient with MKS.

• Clinical and Experimental Pediatrics
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• 제51권11호
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• pp.1236-1240
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• 2008

Smith-Lemli-Opitz 증후군은 콜레스테롤 합성 과정의 장애로 발생하는 상염색체 열성으로 유전되는 드문 질환으로 다양한 기형을 동반한다. 이는 DHCR7 유전자 변이로 인한 활성도 저하로 발생하는 질환으로 7DHC, 8DHC의 증가 및 체내 콜레스테롤의 감소에 따른 임상상을 특징으로 한다. 저자들은 국내에서 최초로 SLO 증후군을 유전자 분석을 통하여 진단하였기에 이를 문헌 고찰과 함께 보고하는 바이다.