• Clinical and Experimental Pediatrics
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• v.51 no.5
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• pp.538-541
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• 2008

Menkes disease is an X-linked recessive copper transport disorder characterized by neurological deterioration, connective-tissue damage, and abnormal hair growth. It is caused by the mutation of the ATP7A gene. This report describes a four-month-old boy with neurological symptoms typical of Menkes disease plus unusual liver involvement. He developed seizures at three months of age and exhibited hypotonia, cephalhematoma, a sagging face, redundant and hypopigmented skin, and abnormal hair growth. In addition, he had unexplained hepatomegaly and high hepatic transaminase. We confirmed the diagnosis of Menkes disease by mutation analysis of the ATP7A gene. To exclude other possible causes for the hepatic abnormalities, a liver biopsy was performed, revealing intracytoplasmic cholestasis, focal spotty necrosis, and minimal lobular activity. The patient's liver involvement may be an underestimated complication of Menkes disease.

• Journal of the korean academy of Pediatric Dentistry
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• v.23 no.3
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• pp.601-608
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• 1996

Robinow syndrome or fetal face syndrome is a rare inherited disorder characterized by short stature, mesomelic brachymelia, hypoplastic genitalia, and a typical facial appearence ("fetal face") with frontal bossing, hypertelorism, ear abnormalities, a short upturned nose, long philtrum, micrognathia, and macrocephaly. Intraoral features have included quite a few dental cavities, crowding, hypoplastic uvula, cleft lip or/and cleft palate, gingival hyperplasia, alveolar hyperplasia, enamel hypoplasia, delayed eruption, and congenital missing of the permanent teeth. We report on a 10 years old girl with Robinow syndrome. The patient had most of the typical anomalies of the syndrome and negative family history but, in addition, had mental retardation, hearing loss, and serous otitis media. Intraoral findings included dental cavities, crowding, hypoplastic uvula, repaired cleft palate, and mouth breathing. Dental treatment and V-tube insertion(by dept. of ENT) were performed under general anesthesia. In all cases of Robinow syndrome, thorough evaluation and united treatments with medical specialists should be performed.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.14 no.1
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• pp.60-65
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• 2014

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disease caused by a defect in cholesterol biosynthesis. This mutation encodes 7-dehydrocholesterol reductase (DHCR7), which is located on chromosome 11q13. It is characterized by typical facial appearances, microcephaly, small up-turned nose, cleft palate, syndactyly, and is correlated with cardiac, gastrointestinal and genital malformations. There may also be mental retardation, behavioral problems and growth retardation. It causes a broad spectrum of effects, ranging from a mild disorder of learning and behavior to a lethal malformation. There are four reports of Smith-Lemli-Opitz syndrome in Korean children. Here, we describe a two months old female with microcephaly, toe syndactyly and a cleft soft palate who was diagnosed as SLOS with c. 1054 C>T (p.R352W) and c.907G>A (p. G303R) mutations.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.12 no.2
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• pp.94-98
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• 2012

Purpose: Developmental delay and mental retardation are frequently occurring disorders that present major socio-economic burden on the affected individual's family and society. Both can be congenital or acquired. However, a large number of people are institutionalized without exact diagnosis and, as a result, have not received proper care. Methods: 508 subjects with mental retardation or developmental delay from six institutions in Chung Buk Province were clinically evaluated and screened for metabolic and endocrinologic problems between 2000 and 2012. Results: Clinical genetic disorders were observed in 52 (10.2%) subjects. Cerebral palsy attributed to 21% of the institutionalized. 18 (3.5%) were diagnosed with metabolic disorders and 13 (2.6%) exhibited secondary endocrinologic dysfunction. Over 16% showed metabolic evidence of malnutrition. Conclusion: 21% and 3.5% of the population institutionalized due to mental retardation or developmental delay were afflicted by preventable cerebral palsy and metabolic disorders, respectively. Through early identification of the causes and early treatment, it may be possible to prevent, reduce, or alleviate the disability of many institutionalized individuals. Further research is imperative for establishing guidelines for diagnostic investigation for mental retardation.

• Journal of Dental Rehabilitation and Applied Science
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• v.30 no.4
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• pp.339-349
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• 2014

If the maxillomandibular relationship is unstable or requires treatment for improved function and esthetics, the first treatment objective is to provide stable occlusal contacts. The patient has moderate mental retardation. Due to inadequate vertical overjet, horizontal arch malrelation and excessive tooth loss, full mouth rehabilitation was required. The purpose of treatment planning is to establish physiologic maxillomandibular relation. Using cephalometrics for occlusal analysis is an aid to make a decision. The amount of horizontal bone reduction was calculated with evaluating soft tissue profile. After provisional denture placement, healing of the surgical site and newly adapted arch relationship was evaluated. The patient satisfied with esthetics and showed stable holding contacts. Periodic examination is needed to exclude occlusal disharmony.

• Journal of Dental Rehabilitation and Applied Science
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• v.30 no.2
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• pp.170-175
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• 2014

The growth disorder influences craniofacial development and early loss of permanent teeth. This case reports the importance of computerized tomography (CT) and surgical guide to identify horizontal bone loss, adjacent teeth and to guide drills when placing implants in a short stature patient. The patient has idiopathic short stature and the 3rd grade of intellectual disability. To recover posterior mandibular teeth, implant treatment was planned. CT images showed that the adjacent teeth were located markedly to the buccal side. A CT-based surgical guide was fabricated and implants was placed using flapless surgery. Bone dehiscence and fenestration may happen when the surgical guide was fabricated just based on adjacent clinical crowns. Thus, it is essential to analysis bone and teeth and to make surgical guide through CT, especially in atrophied bone on grow disorder patients. Furthermore, systematic researches are recommended to elucidate the relationship between growth disorder and tooth malposition.

• Journal of the korean academy of Pediatric Dentistry
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• v.37 no.1
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• pp.124-129
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• 2010

Seckel syndrome is an autosomal recessive disorder characterized by intrauterine growth retardation and post-natally by dwarfism, severe microcephaly, bird-headed profile with receding chin, prominent nose, joint defects, clubfoot, sparse hair, malformation of genitourinary tract and rectum, mental retardation and hematological disorders. There is also a reduction in the number of blood cells. Dental anomalies of Seckel syndrome are crowded teeth with malocclusion, enamel hypoplasia, absence of some teeth and taurodontism. This report described the oral and maxillofacial manifestations of children associated with Seckel syndrome. Children with Seckel syndrome have several dental and skeletal irregularities. The purpose of this study was to report the dental and medical characteristics of the patient and review the literatures of Seckel syndrome.

• The Journal of Pediatrics of Korean Medicine
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• v.22 no.1
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• pp.13-24
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• 2008

Objectives This study was designed to analyze the clinical studies on Mental retardation(MR) in traditional Chinese medicine(TCM). Methods For this study, we searched the clinical studies on MR, which had been published from 2003 to 2007, through web site CNKI(中國知識基礎設施工 http://www.cnki.net). There were 17 clinical studies and we focused on those studies. Results 1. In those Chinese studies, they used following words to describe Mental retardation; 小人弱智($xi\check{a}o\acute{e}rru\grave{o}zh\grave{i}$), 智能發育不全($zh\grave{i}n\acute{e}ngf\bar{a}y\grave{u}buqu\acute{a}n$), 智力低下($zh\grave{i}l\grave{i}d\bar{i}xi\grave{a}$), 精神發育遲滯($j\bar{i}ngsh\acute{e}f\bar{a}y\grave{u}ch\acute{i}zh\grave{i}$), 智能落后($zh\grave{i}n\acute{e}nglu\grave{o}h\grave{o}u$), 智能落后($zh\grave{i}n\acute{e}ngch\acute{i}hu\check{a}n$), 失天愚型患人($xi\bar{a}nti\bar{a}ny\acute{u}x\acute{i}nghu\grave{a}n'\acute{e}r$). 2. There were many kinds of TCM treatment methods for MR, such as herbal medicine, acupuncture, electroacupunture, acupoint injection, Chuna therapy, and special education. And those TCM treatments methods showed higher efficacies in the treatment of MR compared with Western medicine. 3. Mental retardation was related with the deficiency of heart, kidney, liver, spleen(心虛, 腎虛, 肝虛, 脾虛) and the pathological mechanism of Phlegm(絹) and Blood stasis(慫沂)in the studies about the Bian Zheng-the types of differential diagnosis- of MR. 4. Most of studies used Intelligence Quotient(IQ) to assess the efficacy of TCM treatment of MR. And the duration of treatment, the degree of illness, the age of patient, and the cause of illness affected the prognosis of MR. Conclusions These results suggest that traditional medicine could be one of the useful treatments on MR. And these results could be used in the clinical practices and studies on MR in Korea.

• Journal of Genetic Medicine
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• v.7 no.2
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• pp.111-118
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• 2010

Chromosomal microarray analysis (CMA) enables the genome-wide detection of submicroscopic chromosomal imbalances with greater precision and accuracy. In most other countries, CMA is now a commonly used clinical diagnostic test, replacing conventional cytogenetics or targeted detection such as FISH or PCR-based methods. Recently, some consensus statements have proposed utilization of CMA as a first-line test in patients with multiple congenital anomalies not specific to a well-delineated genetic syndrome, developmental delay/intellectual disability, or autism spectrum disorders. CMA can be used as an adjunct to conventional cytogenetics to identify chromosomal abnormalities observed in G-banding analysis in constitutional or acquired cases, leading to a more accurate and comprehensive assessment of chromosomal aberrations. Although CMA has distinct advantages, there are several limitations, including its inability to detect balanced chromosomal rearrangements and low-level mosaicism, its interpretation of copy number variants of uncertain clinical significance, and significantly higher costs. For these reasons, CMA is not currently a replacement for conventional cytogenetics in prenatal diagnosis. In clinical applications of CMA, knowledge and experience based on genetics and cytogenetics are required for data analysis and interpretation, and appropriate follow-up with genetic counseling is recommended.

• Korean Journal of Community Nutrition
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• v.9 no.2
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• pp.121-134
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• 2004

Purpose of this study was to compare nutrient intakes of disabled children and non-disabled children. Subjects consisted of 86 disabled children from a special education school and 127 non-disabled children from an elementary school in Seoul. Nutrient intakes were assessed by modified 24-hr recall method, with the help of children's parents and teachers. Almost all nutrient intakes (energy, protein, fat, carbohydrates, vitamin B$_1$ and niacin) of children with cerebral palsy were significantly lower than those of other groups. But nutrient intakes per body weight of children with cerebral palsy were not significantly different with those of other groups. There was no significant difference between disabled and non-disabled children in almost % RDA (rate of actual intake to RDA) except of energy %RDA in children with cerebral palsy. NARs (nutrient adequacy ratio) for energy and vitamin B$_1$ of children with cerebral palsy were significantly lower than those of children with autism and mental retardation, and non-disabled children. The proportions of energy, carbohydrate and protein intakes from lunch were significantly higher than those from breakfast and dinner in children with mental retardation and autism. The nutrient intakes of disabled children were different between other groups according to the type of handicap. For example, children with cerebral palsy had the risk of undernutrition. On the other hand, autistic children had the tendency of overnutrition. These results suggest that nutrition educational programs and educational materials for disabled children, their teachers and their parents should be developed considering the type of handicap.