• Clinical and Experimental Pediatrics
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• v.46 no.4
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• pp.397-399
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• 2003

All complete monosomy 21 appear to be lethal early in their development in humans and only survive in mosaic forms. Complete monosomy 21 is a very rare and usually debilitating genetic disorder. Partial monosomy 21 is also rare and is thought to constitute a clinical syndrome consisting of peculiar faces, hypertonia, psychomotor retardation, and slow growth. We experienced a case of monosomy 21 mosaicism. Chromosome analysis demonstrated mosaicism for cell lines in the lymphocytes examined; 45, XX, -21/46, XX. The main clinical features were craniofacial dysmorphism including high arched palate, submucosal cleft, micrognathia and arthrogryposis-like symptoms including flexion deformity of fingers. And hematological findings were revealed dyserythropoiesis, thrombocytopenia and eosinophilia. Currently, the patient has nearly compatible growth, but a mild degree of mental retardation. We report here an 8 years old female child with apparent monosomy 21 mosaicism associated with dyserythropoiesis, thrombocytopenia and eosinophilia, with a review of the associated literatures.

• Archives of Plastic Surgery
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• v.34 no.1
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• pp.123-127
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• 2007

Purpose: Rigid external distraction(RED) is a highly effective technique for correction of maxillary hypoplasia in patients with cleft or syndromic craniosynostosis. Despite many advantages of RED, it also has the problem of relapse as the conventional advancement surgery. Bicoronal approach, that is the common approach to gain access to the craniofacial skeleton, had some morbidity, such as hair loss, sensory loss, wide scar and temporal hollowing. We present our clinical experience of RED distraction with minimal invasive approach and early rigid fixation to overcome these disadvantages. Methods: A 27-year-old female patient with Crouzon's disease underwent Le Fort III osteotomy and RED device application through the minimal invasive direct skin incisions. After the latent period of 5 days, distraction was undertaken until proper convexity and advancement were obtained. During the rigid retention period, inflammation occurred on the right cheek, and proper conservative managements were done including continuous irrigation. To maintain the stability of distraction, early rigid fixation was undertaken on the osteotomy sites through another skin incisions. Preoperative and postoperative orthodontic treatments were performed. Serial photographs and cephalometric radiographs were obtained preoperatively, after distraction and 6 months after distraction. Results: The cephalometric analysis demonstrated postoperatively significant advancement of the maxilla and improvement of facial convexity. After 6-month follow-up period, the maxilla was stable in the sagittal plane and no relapse was found. Facial scars were not noticeable and other deformity and morbidity did not occur. Conclusion: This effective and stable technique will be a good alternative for the patients who need large amount of distraction and for adult patients with severe maxillary hypoplasia or syndromic craniosynostosis.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.12 no.1
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• pp.1-5
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• 2016

Robinow syndrome is skeletal dysplasia with both autosomal dominant and recessive inheritance patterns. It is characterized by short-limbed dwarfism, abnormalities in the head and face, as well as vertebral segmentation. A 2-year-7-month old boy with Robinow syndrome had visited Seoul National University Dental Hospital, for the evaluation of tooth palatal eruption on maxilla. He had micrognathia, delayed tooth eruption, cleft lip with bifid uvula. He also had an erupted mesiodens on the palatal side of maxillary primary incisors, which was tuberculated and 8mm in major diameter. The patient was scheduled for mesiodens extraction under general anesthesia. He was a young child with delayed development, so general anesthesia was inevitable. General anesthesia was induced and maintained with inhalation agent, Sevoflurane. There were no postoperative complications related to anesthesia and dental treatment. Robinow syndrome patients have craniofacial dysmorphism and eruption disorders. Therefore, he requires regular check-ups as well as dental managements.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.33 no.5
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• pp.559-566
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• 2007

Distraction osteogenesis(DO) is a surgical method of bone formation that involves an osteotomy and sequential stretching of the healing callus by gradual movement and subsequent remodeling. DO is used to correct facial asymmetry, such as in patients with hemifacial microsomia, maxillary or mandibular retrusion, cleft lip and palate, alveolar defects, and craniofacial deficiency. It is accomplished with the aid of a distraction device, which is secured with screws placed directly into bone, for a predetermined length of time. Hemifacial microsomia is characterized by unilateral facial hypoplasia, often with unilateral shortening of the mandible and subsequent malocclusion. Patients with hemifacial microsomia and facial asymmetry have a vertically short maxilla, tilted occlusal plane, and short mandible. Early treatment is necessary to avoid subsequent impaired midfacial growth. The standard treatment of these malformations consists of the application of bone grafts, which can lead to unpredictable growth. The new bone-lengthening procedure represents a limited surgical intervention and opens up a new perspective for treatment, especially in younger children with severe deformities. This report describes a case of hemifacial microsomia(Type-II left-sided hemifacial microsomia). The patient, a 10-year-old child, visited our clinic for facial asymmetry correction. He had a hypoplastic mandible, displaced ear lobe, 10 mm canting on the right side, and malocclusion. We planned DO to lengthen the left mandible in conjunction with a Le Fort I osteotomy for decanting and then perform a right intraoral vertical ramus osteotomy(IVRO). Progressive distraction at a rate of 0.5 mm/12 hours was initiated 7 days postoperatively. The duration of DO was 17 days. The consolidation period was 3 months. Satisfactory results were obtained in our case, indicating that DO can be used successfully for functional, aesthetic reconstruction of the mandible. We report a case involving DO in conjunction with orthognathic surgery for correcting mandibular hypoplasia with a review of the literature.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.15 no.1
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• pp.79-83
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• 2019

Treacher Collins syndrome(TCS) is an autosomal craniofacial development disorder which results from mutations in the gene TCOF1. Major features include midface hypoplasia, micrognathia, microtia, conductive hearing loss. Oral manifestations are characterized by cleft palate, shortened soft palate, malocclusion, anterior open bite and enamel hypoplasia. The purpose of this presentation is to describe the interesting aspects of dental treatment of a patient with TCS. A 6-year-old boy with TCS visited Seoul National University Dental Hospital for dental caries. Multiple caries was observed from clinical and radiographic examination. Because of multiple caries and behavior management ploblem, dental treatment under general anesthesia was planned. Treatment of posterior teeth was performed and some primary teeth were extracted. General anesthesia was induced and maintained with sevoflurane, nitrous oxide and oxygen. Under general anesthesia, successful dental procedure was done. Considering behavior management problem and medical condition of patient with TCS, general anesthesia can be useful.