• Clinical and Experimental Pediatrics
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• v.46 no.3
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• pp.291-294
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• 2003

Ring chromosome 21 causes a multitude of phenotypes, ranging from severe abnormalities to normal. The proposed mechanism of ring formation, breakage of both short and long arms of a chromosome with subsequent end to end fusion, remains unproven. We encountered a 4-year-old boy who presented developmental delay, microcephaly, micrognathia, hypertelorism, low-set ears, mild optic nerve hypoplasia, cleft lip and palate, scoliosis and left foot valgus, but normal brain MRI. Chromosome study from peripheral blood showed 46,XY, r(21)(p11.2q22.1) karyotype. The authors report the first case of ring chromosome 21 in Korea with a review of the literature.

• Journal of Chest Surgery
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• v.32 no.10
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• pp.966-969
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• 1999

Congenital defects of the sternum are rare development anomalies. They result form the failure of the lateral sternal bars to fuse. This malformation may be associated with other ventral midline fusion defects and ectopia cordis. A complete sternal cleft is the rarest form and less than 10 cases have been reported in the medical literature. Here were report a 3-day-old boy with complete sternal cleft without other malformations, who underwent primary surgical repair. Surgical correction of complete sternal cleft should be performed in neonatal period whether the infant if symptomatic or not because it is usually simple, able to achieve good result and primary repair is usually feasible at this period.

• 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).

• Proceedings of the KOR-BRONCHOESO Conference
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• 1981.05a
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• pp.41.1-41
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• 1981

The combination of congenital stapes fixation and proximal symphalangism has been described in several kindreds. It exhibits autosomal dominant inheritance. A patient, 11-year-old female, visited department of otolaryngology of SNUH in December, 1980. Her complaint was bilateral hearing loss since birth. Physical examination revealed fusion of proximal interphalangeal joints of both 4th and 5th fingers. Tympanic membrane was normal. Temporal bone X-ray was normal. Pure tone audiogram revealed about 60 dB conductive loss with horizontal curve. On exploratory tympanotomy of right side, bony fixation of stapedial footplate was found. So, stapedectomy with connective tissue wire prosthesis was performed. As a result, marked improvement of hearing was obtained with 5 dB A-B gap on operated side.

• Journal of Korean Foot and Ankle Society
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• v.3 no.1
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• pp.53-57
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• 1999

Polydactyly is the most common congenital deformity of the foot. The authors present an unusal case of polydactyly of the foot in an otherwise healthy adult male. The patient has an mixed type of polydactyly composed of polysyndactyly of the first toe, Y shaped second metatarsal and polysyndactyly with the fusion to the forth toe of the fifth toe. Meticulous. preoperative plan was prepared and performed at the operation. Main procedures were as follows : 1) Excision of extradigit of first toe and first metatarsocuneiform joint fusion. 2) Excision of lateral bud of second metatarsal and plantar-medial osteotomy of the medial bud. 3) Metatarsal head resection arthroplasty of third & forth metatarsophalangeal joint and 4) Excision of medial polydactyly of the fifth toe and syndactyly release and split thickness skin graft. Postoperatively, The forefoot width was reduced from 11.5 to 9.5cm and the pain was relieved.

• Molecules and Cells
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• v.19 no.1
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• pp.131-136
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• 2005

The ETV6-NTRK3 gene fusion, first identified in the chromosomal translocation in congenital fibrosarcoma, encodes a chimeric protein tyrosine kinase with potent transforming activity. ETV6-NTRK3-dependent transformation involves the joint action of NTRK3 signaling pathways, and aberrant cell cycle progression resulting from activation of Mek1 and Akt. The level of glutathione (GSH) was found to be markedly increased in ETV6-NTRK3-transformed NIH3T3 cells. The activities of the two GSH biosynthetic enzymes as well as of glutathione peroxidase, together with their mRNAs, were also higher in the transformed cells. The transformed cells were able to grow in the presence of GSH-depleting agents, whereas the control cells were not. L-Buthionine-(S,R)-sulfoximine (BSO) inhibited activation of Mek1 and Akt in the transformed NIH3T3 cells. These observations imply that up-regulation of GSH biosynthesis plays a central role in ETV6-NTRK3-induced transformation.

• Journal of Chest Surgery
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• v.16 no.1
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• pp.127-130
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• 1983

Esophageal atresia and Tracheoesophageal fistula may occur as separate entities but usually occur in combination. First described by Durston in 1970, esophageal atresia was not successfully treated until 1939 when the first two survivors of staged correction were described by Ladd and Leven. In 1941, Haight and Towsley performed the first successful primary repair. Authors report four cases of esophageal atresia of which two cases were treated surgically in success with Haight`s method. The type of four cases were all the same as upper blind pouch and lower tracheoesphageal fistula. Two of them were associated with verterbral defect, imperforate anus and/or rib fusion. Two cases died within seven days due to parent`s refusal for operative therapy, others were treated surgically with Haight`s method. Operative patients tolerated all the operative procedure and recovered uneventfully, permitted feeding on 7th postoperative day. On follow up study, one patient revealed intermittent regurgitation and corrected with bougienation another with good health without complication.

• Journal of Korean Neurosurgical Society
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• v.42 no.2
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• pp.145-148
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• 2007

Klippel-Feil Syndrome (KFS) is a complex congenital syndrome of osseous and visceral anomalies. It is mainly associated with multi-level cervical spine fusion with hypermobile normal segments. Therefore, a patient with KFS can be at risk of severe neurological symptoms even after a minor trauma. We report a patient with type III KFS who developed a hemiparesis after a minor trauma and was successfully managed with operation.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.33 no.4
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• pp.297-306
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• 2007

Distraction osteogenesis was pioneered by Ilizarov in the treatment of injured extremities. Its subsequent application to Oral and Maxillofacial Surgery has opened a new chapter in the treatment of facial deformity. Careful monitoring of the period of distraction and consolidation of the callus is important and has been well described. Complications, such as infection, haematoma and premature ossification, are difficult to diagnose and can compromise the outcome after the surgery. Too slow rate of distraction results in premature fusion of cortices and too rapid information of bone 'cyst' within the callus distraction. I experienced 2 patients of congenital unilateral mandibular hypoplasia, so called Hemifacial Microsomia. After distraction surgery, I evaluated callus formation of mandibular distraction with Ultrasound Sonography during distraction and consolidation period. Plain radiography, although it enables accurate measurement of the distraction gap, did not give sufficient detail to allow assessment of early stages of bone formation, But, ultrasound monitoring could enable continuous monitoring of the distraction gap without exposure to ionizing radiation and allow detection of fine detail, which may influence manipulation of the callus.

• Korean Journal of Veterinary Research
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• v.39 no.5
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• pp.961-964
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• 1999

A six-month-old, male mongrel dog presented with wet ventral abdominal skin hairs and a short prepuce with penis. In physical examination, the penis was underdeveloped with fusion failure of the prepuce and the urethral opening was in the transitional area between os penis and perineal region. The radiological shape of urinary bladder was normal in positive contrast cystography and there was no any other routes except the observed urethral opening. Cryptochidism was also shown. It was diagnosed as hypospadia. Treatment included castration and resection of remnants of the prepuce and penis.