• Journal of Korean Foot and Ankle Society
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• v.6 no.1
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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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• v.32 no.6
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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.

• Journal of the Korean Orthopaedic Association
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• v.53 no.6
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• pp.530-539
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• 2018

Purpose: We aimed to evaluate the magnetic resonance imaging (MRI) findings of congenital postaxial polydactyly of the foot. Materials and Methods: Three-hundred and forty-seven feet of 288 patients who underwent congenital postaxial polydactyly or polysyndactyly correction were divided into five subtypes according to the radiographic shapes of deformity origins (widened metatarsal head, bifid, fused duplicated, incompletely duplicated, or completely duplicated). MRIs were assessed to determine whether they unrevealed areas were fused or separated. MRI was also used to assess cases with radiographic phalangeal aplasia. Results: Huge variations were noted in MRIs. Fusion or separation at the base or head between original and extra digits were observed, and MRI effectively depicted phalangeal aplastic areas. Conclusion: MRI evaluations of congenital postaxial polydactyly of the foot are useful for determining the anatomical statuses which were not visualized by plain radiography (level of evidence: 3).

• Imaging Science in Dentistry
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• v.41 no.4
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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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• v.11 no.1
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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.

• Journal of Korean Foot and Ankle Society
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• v.5 no.2
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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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• v.10 no.1
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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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• v.48 no.1
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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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• v.54 no.5
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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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• v.51 no.11
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• pp.1236-1240
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• 2008

Smith-Lemli-Opitz syndrome (SLOS) 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. The SLOS phenotypic spectrum ranges from a mild disorder with behavioral and learning problems to a lethal disease characterized by multiple malformations. Here, we describe a newborn male with ambiguous genitalia who was diagnosed to have type II SLOS during the neonatal period. A clinical examination revealed low levels of unconjugated estriol in the maternal serum, and a variety of fetal ultrasound anomalies, including prenatal growth retardation. After birth, the infant was diagnosed to have congenital heart disease (Tetralogy of Fallot with severe pulmonary artery stenosis), cleft lip and palate, micrognathia, postaxial polydactyly, ambiguous genitalia, and cataracts. Clinical investigation revealed extremely low plasma cholesterol levels and the presence of mutation (homozygote of p.Arg352Gln) in the DHCR7 gene. The patient underwent palliative heart surgery (to widen the pulmonary artery) and received intravenous lipid supplementation. Cholesterol levels increased slightly, but not to normal values. The patient died from cardiopulmonary failure and sepsis 72 days after birth. This report provides the first description of a Korean patient with SLOS confirmed by verification of DHCR7 gene mutation and illustrates the need for early recognition and appropriate diagnosis of this disease.