• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.38 no.4
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• pp.249-254
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• 2012

Bilateral coronoid process hyperplasia is a rare condition characterized by an enlarged mandibular coronoid process. The painless progressive reduction of a mouth opening is caused by coronoid process impingement on the posterior aspect of the zygomatic bone. Hyperplasia of the bilateral coronoid process leads to the restriction of a mandibular opening consequent to the impingement of the enlarged coronoid process on the temporal surface of the zygomatic bone or with the medial surface of the zygomatic arch. The process has been diagnosed as developmental hyperplasia. Otherwise, the development of the coronoid process may be associated with growth hormone. This paper describes a case of trismus caused by coronoid hyperplasia in an idiopathic short-stature patient who received growth hormone therapy by somatropin injections.

• Imaging Science in Dentistry
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• v.30 no.3
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• pp.229-234
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• 2000

Cleidocranial dysplasia (previously known as cleidocranial dysostosis) is a well-known, rare and hereditary skeletal disorder characterized by a variety of dental abnormalities and as its name implies, striking involvement of the cranial vaults and clavicles. A 17-year-old female who presented with short stature and prolonged retention of deciduous teeth, subsequent delay in eruption of permanent teeth is described. She could touch her shoulders together at the midline anteriorly. Diagnostic procedures showed hypoplasia of the maxillary and zygomatic bones, open fontanelles and sutures, and aplasia of the clavicles. The paranasal sinuses were absent or underdeveloped. Characteristically, she had near parallel-sided borders in the ascending ramus of the mandible and abnormal-shaped, the slender pointed coronoid process. The zygomatic arches had a downward bend and discontinuity at the zygomaticotemporal suture area. Radiographic and clinical investigations of her cranial and skeletal abnormalities revealed features of cleidocranial dysplasia.

• The Journal of Advanced Prosthodontics
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• v.7 no.5
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• pp.406-410
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• 2015

Russell-Silver syndrome (RSS) is a congenital disease characterized by short stature due to growth hormone deficiency, physical asymmetry, inverted triangular face, micrognathia, prominent forehead, and hypodontia. This case report presents a prosthetic management of a 6-year-old patient with Russell-Silver syndrome treated with overdentures on the maxilla and the mandible using the remaining primary teeth. Subsequent and comprehensive dental management considering the growth and development of a young patient will be necessary.

• Journal of Genetic Medicine
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• v.10 no.1
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• pp.52-56
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• 2013

Mosaic trisomy 14 syndrome is a well-known but unusual chromosomal abnormality with a distinct and recognizable phenotype. Array comparative genomic hybridization (CGH) analysis has recently become a widely used method for detecting DNA copy number changes, in place of traditional karyotype analysis. However, the array CGH shows a limitation for detecting the low-level mosaicism. Here, we report the detailed clinical and cytogenetic findings of patient with low-frequency mosaic trisomy 14, initially considered normal based on usual cut-off levels of array CGH, but confirmed by G-banding karyotyping. Our patient had global developmental delay, short stature, congenital heart disease, craniofacial dysmorphic features, and dark skin patches over her whole body. Estimated mosaicism proportion was 23.3% by G-banding karyotyping and 18.0% by array CGH.

• Journal of mucopolysaccharidosis and rare diseases
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• v.1 no.2
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• pp.40-43
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• 2015

Prader-Willi syndrome (PWS), a complex genetic disorder, arises from suppressed expression of paternally inherited imprinted genes on chromosome 15q11-q13. Characteristics include short stature, intellectual disability, behavioral problems, hypogonadism, obesity, and reduced bone and muscle. The life expectancy of persons with PWS has increased in recent years. Cardiovascular diseases, diabetes, dermatological, and orthopedic problems are common physical complaints in older people with PWS. Behavioral problems are major concerns in adults with PWS into old age. And aging is also associated with significant social and economic changes. Age-related physical morbidity, physical appearance, behavioral and psychiatric problems, functional decline and economic problems can be combined in older PWS. The care for older people with PWS requires a life span approach that recognizes the presence, progression, and consequences of specific morbidity.

• Clinical and Experimental Pediatrics
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• v.49 no.7
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• pp.703-709
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• 2006

Since the advent of growth hormone(GH), children with a wide variety of growth disorders have received GH treatment. In GH deficiency(GHD), Turner syndrome, chronic renal failure, children born small for gestational age, Prader-Willi syndrome, and idiopathic short stature, the therapeutic effects and safety profile of GH are reviewed. GH therapy has been clearly shown to improve height velocity and final adult height in a variety of pediatric conditions in which growth is compromised irrespective of GHD. Early initiation and individualization of GH treatment has the potential to normalize childhood growth. The supra-physiological doses of GH have been shown to increase height velocity during childhood and final height in non-GHD conditions. Adverse events during GH therapy are uncommon and often not drug related. However continued surveillance into adult life is crucial, especially in children receiving supra-physiological doses or whose underlying condition increases their risk of adverse effects.

• The Journal of Pediatrics of Korean Medicine
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• v.13 no.2
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• pp.225-235
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• 1999

MELAS is the condition associated with mutant mtDNA that most closely mimics thrombotic cerebrovascular disease. Characteristic abnormalities are two. first, 'ragged-red fibers' in muscle biopsy. second, point mutation in the mitochondrial DNA analyses. The characteristic clinical presentations of MELAS are short stature, recurrent stroke like episodes, migraine-like headache, sensorineural hearng loss, glucose intolerance and neuropathy. We now report a case of MELAS syndrome having mitochondrial DNA mutation with an A to G transition at the 3,243rd position diagnosed in Chung-ang Hospital.

• Journal of Dental Anesthesia and Pain Medicine
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• v.17 no.3
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• pp.231-233
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• 2017

Wolf-Hirschhorn syndrome is a rare hereditary disease that results from a 4p chromosome deletion. Patients with this syndrome are characterized by craniofacial dysgenesis, seizures, growth delay, intellectual disability, and congenital heart disease. Although several cases have been reported, very little information is available on anesthetic management for patients with Wolf-Hirschhorn syndrome. We encountered a case requiring anesthetic management for a 2-year-old girl with Wolf-Hirschhorn syndrome. The selection of an appropriately sized tracheal tube and maintaining intraoperatively stable hemodynamics might be critical problems for anesthetic management. In patients with short stature, the tracheal tube size may differ from what may be predicted based on age. The appropriate size ( internal diameter ) of tracheal tubes for children has been investigated. Congenital heart disease is frequently associated with Wolf-Hirschhorn syndrome. Depending on the degree and type of heart disease, careful monitoring of hemodynamics is important.

• Clinical and Experimental Pediatrics
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• v.59 no.9
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• pp.355-361
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• 2016

The menarcheal age of Korean women has been rapidly decreasing for the last 50 years, and the average menarcheal age of women born in the 1990s is approaching 12.6 years. In addition, interest in early puberty has been increasing recently owing to the rapid increase in precocious puberty. Generally, out of concern for short stature and early menarche, idiopathic central precocious puberty in female adolescents is treated with gonadotropin-releasing hormone analogs. Studies to date have described the association between early menarche and psychosocial problems such as delinquency and risky sexual behavior, as well as physical health problems such as obesity, diabetes, cardiovascular diseases, and breast cancer throughout the lifespan of women. However, the pathophysiological mechanism underlying this association has not been clarified thus far. In this article, we review and discuss the existing literature to describe the current understanding of the effects of early menarche on the physical and psychosocial health of adolescent girls and adult women.

• Journal of Genetic Medicine
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• v.17 no.1
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• pp.34-38
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• 2020

The term dopa-responsive dystonia (DRD) is used to describe a group of neurometabolic disorders, which are characterized by dystonia, and are typically associated with diurnal fluctuations and respond to levodopa treatment. Autosomal dominant DRD (DYT5a, MIM# 128230) is caused by a heterozygous mutation in the GTP cyclohydrolase 1 (GCH1) gene (MIM# 600225). GCH1 encodes an enzyme, which is involved in the biosynthesis of tetrahydrobiopterin, an essential co-factor for tyrosine hydroxylase. Herein, we report the case of a 16-year-old girl who was diagnosed with DYT5a. She exhibited additional unusual clinical features, including intellectual disability, depression, multiple skeletal anomalies, and short stature, which are not commonly observed in patients with DYT5a. The patient harbored a heterozygous missense variant, c.539A>C, p.Gln180Pro, in the GCH1 gene, which was identified by targeted gene panel analysis using next-generation sequencing.