• The Journal of Korea Assosiation for Disability and Oral Health
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• v.6 no.2
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• pp.94-98
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• 2010

Axenfeld-Rieger syndrome is a rare autosomal dominant disorder characterized by various ocular and extraocular malformations. The incidence of Axenfeld-Rieger syndrome has been estimated to be 1 per 200,000. The syndrome is characterized by short body stature, delayed bone age, and deficient or arrested development of neural crest cells involving the anterior chamber of the eyes, facial bones, teeth, periumbilical skin, and cardiovascular system. This is a case of a 6 year-old girl, who came to the department of the pediatric dentistry, Yonsei University Dental Hospital, for evaluation and treatment of multiple congenital missing permanent teeth. The patient presented typical dental, craniofacial, and systemic features of Axenfeld-Rieger syndrome, such as glaucoma, oval pupil, heterochromatic iris, umbilical hernia, and delayed bone age. On the panoramic view, 3 primary teeth were missing and 13 permanent tooth germs were absent. On the lateral cephalograph, underdevelopment of the maxilla and normal growth pattern of the mandible were confirmed. Periodic dental follow-up is planned for evaluation and interceptive treatment of her dental and craniofacial problems. Denture or removable space maintainer with a pontic is considered for esthetic and functional restoration. In addition, orthognathic surgery is also planned in future to prevent further midfacial skeletal deformation. Early diagnosis of Axenfeld-Rieger syndrome is very important to prevent exacerbation of complications, such as glaucoma and skeletal deformities.

• Journal of Genetic Medicine
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• v.16 no.2
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• pp.55-61
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• 2019

Purpose: Genetic defects in the nuclear-encoded mitochondrial aminoacyl-tRNA synthetases were first identified as causes of various disorders in 2007. Variants in IARS2, which encodes a mitochondrial isoleucyl-tRNA synthetase, were first reported in 2014. These variants are associated with diverse phenotypes ranging from CAGSSS (CAtaracts, Growth hormone deficiency, Sensory neuropathy, Sensorineural hearing loss, and Skeletal dysplasia) and Leigh syndrome to isolated nonsyndromic cataracts. Here, we describe the phenotypic and genetic spectrum of Korean patients with IARS2-related disorders. Materials and Methods: Using whole-exome sequencing followed by Sanger sequencing, we identified five patients with IARS2 mutations. Their medical records and brain magnetic resonance images were reviewed retrospectively. Results: All five patients presented with developmental delay or regression before 18 months of age. Three patients had bilateral cataracts, but none had hearing loss or sensory neuropathy. No evidence of skeletal dysplasia was noted, but two had short stature. One patient had cardiomyopathy and another exhibited renal tubulopathy and hypoparathyroidism. Their brain imaging findings were consistent with Leigh syndrome. Interestingly, we found the recurrent mutations p.R817H and p.V105Dfs*7 in IARS2. Conclusion: To our knowledge, this is the first report of Korean patients with IARS2-related disorders. Our findings broaden the phenotypic and genotypic spectrum of IARS2-related disorders in Korea and will help to increase clinical awareness of IARS2-related neurodegenerative diseases.

• Journal of the korean academy of Pediatric Dentistry
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• v.45 no.1
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• pp.115-122
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• 2018

Noonan syndrome is characterized by distinctive facial features, short stature, and congenital heart disease. It is a congenital genetic disorder with a prevalence of between 1/1,000 and 1/2,500 in both genders. An 11-year-old boy with Noonan syndrome visited the hospital with an ectopically positioned tooth. A pulmonary stenosis was diagnosed and his growth and development were delayed. In many cases of this diseases there is obvious hemostasis, which he was not experiencing. His facial appearance showed characteristic features of Noonan syndrome. The patient showed a dental class II relationship, labioversion of the upper anterior teeth, and a shallow overbite. Radiographic examination revealed that the upper right canine was ectopically positioned, which led to root resorption of the upper right lateral incisor. A lateral cephalometric radiograph revealed a craniofacial pattern that was within normal limits. Surgical opening and button attachment on the impacted upper right canine were performed and traction was applied on the impacted tooth using a removable appliance. This patient was mildly affected by Noonan syndrome and showed some dental problems. However, few studies have reported the oral characteristics of Noonan syndrome despite its high incidence. Thus, this case report describes the oral features and management of Noonan syndrome.

• Clinical and Experimental Pediatrics
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• v.51 no.10
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• pp.1052-1057
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• 2008

Purpose : This study was to examine the relations of perception of physique with self-esteem, sociality and problematic behaviors in children. Methods: Four hundred sixty five (231 boys and 234 girls) children were divided into three groups according to their height or body mass index according to the physical growth standard table had been presented in 2007 by the Korean Pediatric Society. The group 1, 2, and 3 was short, borderline and normal or obese, overweight and normal, respectively. Their perception and satisfaction of height and weight were investigated, and their self esteem and behavior styles were examined with Self-Esteem Inventory (SEI) and Korean Child Behavior Checklist (K-CBCL). We compared the numbers of appropriate perception, satisfaction, self-esteem and problematic behaviors in each group, and analyzed the relationship among perception of physique, self-esteem, sociality, and behavioral characteristics. The collected data were analyzed with chi-square test, ANOVA and Pearson correlation coefficient used with SPSS (ver. 12.0). Results : There were significant mismatches among their real physique perception and satisfaction (P<0.05). There were no significant differences of their self-esteem, sociality, and problematic behaviors according to their actual height and weight. There were significant differences of their self-esteem according to their perception or satisfaction of their height and weight (P<0.01). Conclusion : The children who considered themselves have short stature or obesity had problematic behaviors or low self-esteem. Therefore, children should be educated to have the appropriate perception of their own body image.

• Clinical and Experimental Pediatrics
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• v.57 no.3
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• pp.140-148
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• 2014

Purpose: Lowe syndrome is a rare, X-linked recessive disorder caused by mutations in the OCRL gene. It involves multiple anatomic systems, particularly the eyes, central nervous system, and kidneys, and leads to profound growth failure and global developmental delay. This study evaluated the clinical and genetic characteristics of Korean patients with Lowe syndrome. Methods: The clinical findings and results of genetic studies were reviewed for 12 male patients diagnosed with Lowe syndrome at a single medical institution. Results: The mean age of the patients at presentation was 2.2 months (range, 0-4 months), although the diagnosis was delayed by a mean of 2.8 years (range, 0-9.7 years). The mean follow-up period was 9.0 years (range, 0.6-16.7 years). Nine mutations in OCRL were identified in 11 patients (92%), with three novel mutations. The main presentation was congenital cataract in both eyes necessitating early cataract removal in the 11 patients with impaired visual acuity. Profound short stature and developmental delay were observed in all patients, and seizures occurred in 50% of the patients. All patients suffered from proximal renal tubular dysfunction, and one patient developed chronic renal failure. Other manifestations included pathologic fracture (50%), cutaneous cysts (42%), and cryptorchidism (42%). However, there was no bleeding tendency, and none of the patients died during the study period. Conclusion: This study describes the clinical and genetic characteristics of Korean patients with Lowe syndrome. The observations are helpful for understanding the natural courses of Lowe syndrome and for appropriate genetic counseling.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.1
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• pp.18-24
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• 2015

Glycogen storage disease type Ib (GSD Ib) is one of the rare inherited metabolic disease caused by mutation of SLC37A4 gene. Clinical characteristics include hepatomegaly, hypoglycemia, lactic acidosis, hyperlipidemia and high serum uric acid concentration. The authors analyzed clinical and molecular characteristics of three Korean patients (one male and two females) with GSD Ib by retrospective review of medical records. Two patients were diagnosed in toddler period by hypoglycemia and hepatomegaly. One patient was diagnosed by growth retardation and short stature in puberty. c.412T>C (p.Trp138Arg) (3/6 alleles, 50.0%) was most frequently observed, following by p.Leu348Valfs*53 (1 allele), p.Pro191Leu (1 allele), p.Ala148Val (1 allele) in molecular analysis. Uncooked corn starch and allopurinol was administered. Because all three patients had neutropenia and recurrent infections, G-CSF was administered. Two patients had severe osteoporosis needing calcium supplement. The patient who diagnosed at puberty had relatively poor prognosis demonstrated by having severe infection and complications in liver and kidney.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.14 no.1
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• pp.123-127
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• 2003

Cornelia de Lange syndrome is a dysmorphogenic disorder characterized by multiple congenital abnormalities, mental retardation, growth retardation and neurodevelopmental abnormalities. Diagnosis for the Cornelia de Lange syndrome is dependent on the clinical observation because neither definite biological marker nor definite chromosomal abnormality have been investigated. Clinical observation is important for the diagnosis, so we report a case of Corenelia de Lange syndrome with mental retardation and autistic disorder. The patient is a 6-year old girl. Her motor development and language development have been delayed. She could say no meaningful word and understood simple command partially. She showed poor eye contact and poor emotional interaction. Social interaction was impaired and she Showed stereotypic behaviors. Thus we diagnosed her as mental retardation with autistic disorder. She had vesicoureteral reflux, frequent upper respiratory infection and pneumonia. She had experienced febrile convulsions 4 times. She had short stature, confluent eyebrows, long eyelashes, and upturned nose with anteverted nostrils. She also showed low hairline and hypertrichosis in body and extremities. Her finger was short. In this case, we diagnosed Cornelia de Lange syndrome by her characteristic face, hypertrichosis and medical and behavioral problems that were frequently showed in this syndrome.

• Korean Journal of Breeding Science
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• v.42 no.4
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• pp.407-412
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• 2010

Recently, peoples are greatly concerned with global temperature change because global warming can be a potential serious effect on agriculture production such as yield reduction and poor grain quality. On the other hand, it can bring some beneficial effects through twice cultivation of rice in temperate region. In order to overcome this situation, we developed extremely early-maturing rice 'Milyang255' which heading date was similar with 'Jinbuolbyeo'. Based on agronomic characteristics of 'Milyang255', it has very short stature as 65 cm of culm length and slightly lower spikelets number per panicle compared with that of 'Jinbuolbyeo'. However, the grain appearance, palatability and other items were better than those of 'Jinbuolbyeo' in panel test of cooked rice. The milled rice yield of 'Milyang255' is 3.94 MT/ha at the early transplanting. Especially, its grain filling rate was higher and faster than Jinbuolbyeo and the head rice ratio in milled rice was also higher. Thus, 'Milyang255' can efficiently reduce the growth duration of rice cultivation and also be useful material for research on twice cultivation of rice in Korea.

• Clinical and Experimental Pediatrics
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• v.48 no.2
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• pp.191-196
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• 2005

Purpose : Short stature is one of the characteristic features of Turner syndrome. We investigated the factors affecting final adult height(FAH) in patients with Turner syndrome. Methods : The study group was comprised of 60 patients who were diagnosed with Turner syndrome by chromosomal study and clinical phenotypes and attained FAH. Data were obtained from retrospective review of the medical records. We analyzed the factors influencing FAH in growth hormone(GH) treated and GH untreated groups. Results : Sixty patients were enrolled; 48 patients received GH treatment, and 12 patients did not. Mean duration of GH treatment was 35.8 months(range 4 to 120 months), and mean dosage of GH was $0.8{\pm}0.2IU/kg/wk$ in GH treated group. Mean growth velocity was $5.6{\pm}2.0cm/yr$, which was significantly higher than that during pretreatment period. In the GH treated group, mean chronological age, bone age, mean height, and height standard deviation(SD) score at GH treatment were $12.2{\pm}2.7yr$ $10.3{\pm}2.5yr$ $127.5{\pm}10.1cm$ and $-3.1{\pm}1.1$, respectively. In the GH treated group, the mean FAH and SD score of FAH were $146.9{\pm}5.8cm$ and $-2.7{\pm}1.2$, respectively, which showed significant differences compared with those of the GH untreated group. Analyzing the factors affecting FAH in GH-treated patients, only the SD score of height at the time of treatment was significantly related to FAH. Conclusion : GH treatment leads to an increment in FAH in patients with Turner syndrome. Average FAH gain was as much as 5.8 cm. SD score of height at the time of GH treatment was the only factor influencing FAH.

• Childhood Kidney Diseases
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• v.8 no.2
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• pp.195-204
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• 2004

Purpose: Hypophosphatemic rickets is a hereditary disease, characterized by hypophosphatemia due to renal phosphate wasting, impaired renal production of 1,25-dihydroxyvitamin $D_3$, rachitic bone deformities and impaired growth. The purpose of this study is to provide clinical profiles of patients with hypophosphatemic rickets in our hospital. Methods: Between July 1983 and February 2004, 56 patients were diagnosed as having hypophosphatemic rickets. The medical records of these patients were reviewed retrospectively. Clinical manifestations, family histories, laboratory data, treatment outcomes were described. Results: Fifty six patients were enrolled in this study. The average age at symptom onset and diagnosis were 20 months and 5 years respectively. Fourteen patients had family histories. The main clinical manifestations were bow legs and short stature. There was a significant negative correlation between the ages and the height z-scores at the time of diagnosis(r=-0.47, P=0.005). Initial laboratory data showed normocalcemia, hypophosphatemia, elevated serum alkaline phosphatase, decreased tubular reabsorption of phosphate and a normal range of 1,25-dihydroxyvitamin $D_3$ Radiographic examinations of bone revealed fraying, widening and cupping of the metaphyseal ends. Treatment consisted of Joulie solution and vitamin D metabolites, and resulted in improved biochemical and radiographic findings. However, height z-scores remained essentially unchanged(P=0.224). Complications of treatment were frequently observed, including hyperparathyroidism, nephrocalcinosis, and hypercalciuria. Sixteen patients had corrective osteotomy and 4 of them underwent leg lengthening together. Conclusion: There was a gap of several years between the onset of symptoms and the diagnosis. Early treatment seems to be essential to growth. For the earlier treatment, the offsprings of affected parents should be followed up closely.