• Archives of Plastic Surgery
• /
• v.33 no.3
• /
• pp.379-382
• /
• 2006

Clinodactyly is defined as an angulation of a digit in the radio-ulnar plane. This anomaly can be congenital, dominantly inherited, or acquired due to trauma or inflammation. Although the deformity usually causes little functional impairment, correction is made because of cosmetic problems. Male subject, with polydactyly on thumb(Wassel's type VII) received first surgery at the age of one. And at the age of six, abnormal growth on the radial side of the first metacarpal bone and ulnar deviation of the distal phalanx of the thumb at the interphalangeal joint had developed. The authors used the growing bony segment from the first metacarpal bone as a bone graft for the correction of clinodactyly on thumb. Z-plasty incision was made on the concave(ulnar) side of thumb and a wedge osteotomy was made on the distal phalanx. The bone graft was inserted into the gap of the distal phalanx of the thumb and fixed it with K-wires. Deformity of the metacarpal bone and clinodactyly on thumb was corrected effectively without donor site morbidity with noticible growth of the grafted metacarpal bone 12 months after surgery.

• Journal of the korean academy of Pediatric Dentistry
• /
• v.29 no.1
• /
• pp.51-56
• /
• 2002

Russell-Silver syndrome is a type of intrauterine growth retardation, characterized by short stature noted at birth, hemiatrophy or asymmetry, variation in sexual development and other abnormalities, including cafe-aulait pigmentation and clinodactyly. Facial features commonly associated with this syndrome are a small triangular face, decreased facial height, down-turned corners of the mouth(shark's mouth), a small mandible, and occasionally asymmetry. The major intra-oral features of the syndrome that have been reported are a high-arched palate, delayed tooth eruption, microdontia, hypodontia, and crowding. These cases were diagnosed at birth as Russell-Silver syndrome by clinical features such as prenatal growth retardation, short stature, low body weight, et al., and have been treated with growth hormone. The purpose of this paper is to report the dental findings of two patients and review the pertinent literature through the two cases.

• Journal of the Korean Orthopaedic Association
• /
• v.55 no.2
• /
• pp.154-161
• /
• 2020

Purpose: To describe the clinical and radiology results of a surgical treatment for clinodactyly due to a longitudinal epiphyseal bracket. Materials and Methods: This study analyzed the records of 11 patients (27 case) with clinodactyly due to a longitudinal epiphyseal bracket who underwent an osteotomy or physiolysis between March 1999 and April 2017. The preoperative range of motion of the proximal and distal interphalangeal joints, the subjective satisfaction of the patient, and the degree of angulation to the ulnar side were examined. The patients were classified into two groups: osteotomy and physiolysis. The results were reviewed retrospectively and compared according to the surgical method. Results: The mean age of the patients who underwent osteotomy was 10.3 years. The average preoperative angle was 25.7° and the average postoperative angle was 13.5° the mean correction rate was 47.4%. The mean age of the patients who underwent physiolysis was 6.0 years the mean preoperative angle was 24.5° and the postoperative angle was 10.7°. The average correction rate was 59.4%. No significant difference in the correction angles was observed between the group who underwent the correction osteotomy and the group who underwent the osteotomy. In each group, the postoperative correction was statistically significant. The range of motion at the last follow-up was not significantly different from the preoperative range of motion. Conclusion: In patients with clinodactyly due to longitudinal epiphyseal bracket, osteotomy or physiolysis may be performed selectively according to age, bone age, and radiological progression. Both surgical methods showed good clinical results and deformity correction.

• Journal of Korean Foot and Ankle Society
• /
• v.20 no.1
• /
• pp.36-38
• /
• 2016

Tarsal coalition is an abnormal union between two or more bones of the hind- and mid-feet, which can occur at various rates from cartilaginous to osseous union. Talonavicular coalition is reported less frequently than calcaneonavicular or talocalcaneal coalition and has been associated with various abnormalities, including symphalangism, clinodactyly, ray anomaly, clubfoot, other tarsal coalitions, and a ball-and-socket ankle joint. Patients with talonavicular coalitions are usually asymptomatic and rarely require surgical treatment. We review the literature and report on a case of 59-year-old male patient with talonavicular coalition.

• The Journal of Korea Assosiation for Disability and Oral Health
• /
• v.6 no.2
• /
• pp.99-104
• /
• 2010

Russell-Silver syndrome is a genetic disorder characterized by intrauterine and/or postnatal growth restriction and typical facies. The clinical feature is various due to heterogeneous genetic characters. Their common findings are short stature without catch-up growth, normal head size for age, a distinctive triangular face with prominent forehead and a pointed chin, low set ears and clinodactyly of the fifth fingers. Intraoral features of the syndrome are microdontia, delayed tooth eruption, hypodontia, and crowding. More than 400 case have been reported in the literature, and estimated incidence is from 1 in 3000 to 1 in 100,000. In this case we performed caries treatment under the general anesthesia for the patient with Russell-Silver syndrome. Dentist have to consider microstomia for the management of patients with Russell-Silver syndrome.

• Clinical and Experimental Pediatrics
• /
• v.45 no.7
• /
• pp.917-922
• /
• 2002

An unbalanced translocation is frequently the result of inheritance of an unbalanced haploid set from a parent with a balanced translocation. Families in which one parent is a balanced translocation carrier fall into the following classes : Those in which none of the possible abnormal offsprings is viable; Those in which one type of offspring, usually the one with the smaller deletion, is born alive; Those in which two types of abnormal offspring are viable. We report a neonate whose karyotype was 46,XX,der(2)t(2;7)(q21;p21.2),der(20)t(2;20)(q21;p13). She was small for her gestational age and had multiple anomalies such as exophthalmos, corneal opacity, short neck, tongue tie, clinodactyly, atrial septal defect, patent ductus arteriosus and ventriculomegaly. Moreover, her mother's karyotype was 46,XX,der(2)t(2;7)(q21;p21.2),del(16)(q22.1),der(20)t(2;20)(q21;p13) but her father had normal karyotype. The same derivative chrosomes were found between mother and her infant, except for del(16)(q22.1) in her mother and these same unbalanced translocations in a two-generation family are extremely rare.

• Journal of Genetic Medicine
• /
• v.8 no.2
• /
• pp.130-134
• /
• 2011

Saethre-Chotzen syndrome is an autosomal dominant craniosynostosis syndrome, usually involving unior bilateral coronal synostosis and mild limb deformities, and is induced by loss-of-function mutations of the TWIST1 gene. Other clinical features of this syndrome include ptosis, low-set ears, hearing loss, hypertelorism, broad great toes, clinodactyly, and syndactyly. The authors of the present study report 2 children with clinical features of Saethre-Chotzen syndrome who showed mutations in the TWIST1 gene, and is the first molecular genetic confirmation of Saethre-Chotzen syndrome in Korea. The molecular genetic testing of the TWIST1 gene for patients with coronal synostoses is important to confirm the diagnosis and to provide adequate genetic counseling.

• The Journal of Korea Assosiation for Disability and Oral Health
• /
• v.12 no.2
• /
• pp.87-91
• /
• 2016

Pierre Robin syndrome (PRS) is characterized by the triad of congenital mandibular hypoplasia, glossoptosis and cleft palate. Infant PRS patients are frequently suffering from upper airway obstruction, gastroesophageal reflux and growth retardation caused by above mentioned problems. We report a dental caries treatment of 3-year old girl with Pierre Robin syndrome with multiple caries. The cause of multiple caries was mainly presumed as patient's eating habit caused by her general condition. She had some feeding problems and had history of gastric tube. She was still using milk bottle and took more than an hour to finish a meal. The treatment was performed under general anesthesia considering patient's condition; mild autism, poor cooperation and respiratory problem due to micrognathia. Severely affected upper incisors were treated with pulp treatment and restored with zirconia crown for esthetic purpose. Lower incisors were treated with pulp treatment and restored with composite resin. Upper right first primary molar was restored with stainless steel crown and other primary molars were treated with composite resin. There were no postoperative complications. According to her parents, the patient's compliance to oral hygiene management was greatly improved after the treatment since she was very pleased with the esthetic result and highly motivated by her looks. The treatment without sedation or general anesthesia would be possible once the airway is improved as the mandible grows.

• Journal of the korean academy of Pediatric Dentistry
• /
• v.31 no.4
• /
• pp.701-704
• /
• 2004

In this case, we would like to discuss about the single rooted deciduous mandibular first molar. The deciduous mandibular molar of a five years old boy was shown to have a single root, bilaterally. Ordinarily, the maxilary molars have three roots and the mandibular molars have two roots. However, when the hertwig's epithelial root sheath do not invaginate properly during tooth development, root fusion can occur from the absence of root separation. Molars with fused roots not only have unfavorable crown to root ratio, but also according to many reports, have higher probability of having multiple congenitally missing teeth or dens invaginatus in the maxillary incisors, consequently requiring preventive dental treatment In addition, disorders such as ectodermal dysplasia, syndactyly, clinodactyly, bluish sclera can also be related to this condition. Root fusion is known to be of autosomal recessive inheritance. Up to date, single rooted molars have been reported several times in permanent dentitions but hardly in deciduous dentition, which is the motive for this paper.

• Journal of Genetic Medicine
• /
• v.7 no.1
• /
• pp.37-44
• /
• 2010

Purpose : Kabuki syndrome is a multiple congenital malformation syndrome with mental retardation. It was named after its characteristic appearance, a face resembling that of an actor in a Kabuki play. To date, six Korean cases of Kabuki syndrome have ever been reported. Here, we present the phenotypic and genetic characteristics of six patients with Kabuki syndrome. Materials and Methods : Between 2003 and 2009, six Korean girls have been diagnosed and followed up as Kabuki syndrome at Center for Genetic Diseases of Ajou University Hospital. Their clinical and laboratory data were collected and analyzed by the retrospective review of medical records. Results : All six patients showed the characteristic facial dysmorphism and developmental delay. Persistent fingertip pads were also found in all patients. Most patients showed postnatal growth retardation (83.3%) and hypotonia (83.3%). Opthalmologic problems were common, particularly for strabismus (83.3%). Congenital heart defects were present in three patients (50%). Skeletal abnormalities including 5th finger shortening (83.3%), clinodactyly (50%), joint hypermobility (50%) and hip dislocation (16.7%) were also observed. There was no patient who had positive family history for Kabuki syndrome. Cytogenetic and molecular cytogenetic analyses including karyotyping and array CGH could not reveal any underlying genetic cause of Kabuki syndrome. Conclusion : Korean patients with Kabuki syndrome showed a broad spectrum of clinical features affecting multiple organ systems. Although clinical manifestations of Kabuki syndrome have been well established, our results failed to detect recurrent chromosome aberrations which could cause Kabuki syndrome. Its natural history and genetic background remains to be further studied for providing appropriate management and genetic counseling.