• Journal of Genetic Medicine
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• 제11권2호
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• pp.79-82
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• 2014

Mowat-Wilson syndrome is an extremely rare genetic disease that is characterized by intellectual disability, facial dysmorphism, Hirschsprung's disease, and other congenital anomalies. This disorder is caused by heterozygous mutations or deletions in the zinc finger E-box-binding homeobox-2 gene (ZEB2). Thus far, approximately 200 cases of Mowat-Wilson syndrome have been reported worldwide. In Korea, only one case with a 2q22 deletion, which also affects ZEB2, has been previously reported. Here, we describe a patient with Mowat-Wilson syndrome who presented with developmental delays, typical facial dysmorphism, and Hirschsprung's disease. Molecular analysis of ZEB2 identified a novel heterozygous mutation at c.190dup ($p.S64Kfs^*6$). To our knowledge, this is the second report of a Korean patient with Mowat-Wilson syndrome that has been confirmed genetically.

• Journal of Dental Anesthesia and Pain Medicine
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• 제17권3호
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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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• 제59권1호
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• pp.16-23
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• 2016

Purpose: The 1p36 deletion syndrome is a microdeletion syndrome characterized by developmental delays/intellectual disability, craniofacial dysmorphism, and other congenital anomalies. To date, many cases of this syndrome have been reported worldwide. However, cases with this syndrome have not been reported in Korean populations anywhere. This study was performed to report the clinical and molecular characteristics of five Korean patients with the 1p36 deletion syndrome. Methods: The clinical characteristics of the 5 patients were reviewed. Karyotyping and multiplex ligation-dependent probe amplification (MLPA) analyses were performed for genetic diagnoses. Results: All 5 patients had typical dysmorphic features including frontal bossing, flat right parietal bone, low-set ears, straight eyebrows, down-slanting palpebral fissure, hypotelorism, flat nasal roots, midface hypoplasia, pointed chins, small lips, and variable degrees of developmental delay. Each patient had multiple and variable anomalies such as a congenital heart defect including ventricular septal defect, atrial septal defect, and patent duct arteriosus, ventriculomegaly, cryptorchism, or hearing loss. Karyotyping revealed the 1p36 deletion in only 1 patient, although it was confirmed in all 5 patients by MLPA analyses. Conclusion: All the patients had the typical features of 1p36 deletion. These hallmarks can be used to identify other patients with this condition in their early years in order to provide more appropriate care.

• Journal of Genetic Medicine
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• 제11권2호
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• pp.86-90
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• 2014

Smith-Lemli-Opitz syndrome (SLOS) is a rare autosomal recessive disorder caused by 7-dehydrocholesterol reductase deficiency. The characteristic clinical features are syndactyly of the second and third toes, facial dysmorphism, multiple malformations, and intellectual disability. Few cases of SLOS have been reported in Korea. We observed a male patient with SLOS who presented with typical facial features, undescended testes, microcephaly, bilateral syndactyly of the second and third toes, and cardiac defects, including patent ductus arteriosus and atrial septal defect. Mutation analysis of the DHCR7 gene identified compound heterozygous mutations of c.907G>A (p.Gly303Arg) and c.1055G>A (p.Arg352Gln). In a review of the literature, c.1054C>T (p.Arg352Trp) was the most common mutation reported in Far East Asian countries. This report describes the clinical features, biochemical data, molecular characteristics, and clinical outcome of a Korean patient with SLOS.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제20권1호
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• pp.65-70
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• 2017

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is one of the phosphatase and tensin homolog hamartoma tumor syndrome with a PTEN gene mutation. It is a rare dominant autosomal disorder characterized by cutaneous lipomas, macrocephaly, intestinal polyps, and developmental delay. Diagnosing this syndrome is important, because it may represent the pediatric phenotype of Cowden syndrome, in which there is an increased risk for malignant tumors in children. Until now, the prevalence of BRRS is unknown. Several dozen cases have been reported in the medical literature, but no case has been reported in Korea. Here we report a case of a 19-year-old girl who was diagnosed with BRRS because of macrocephaly, intellectual disability, and intestinal polyps. Her mother had similar findings and a PTEN mutation. Neither patient had mutations detected by conventional mutation-detection techniques, but a PTEN gene deletion was demonstrated by chromosomal microarray analysis.

• 인간행동과 음악연구
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• 제6권2호
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• pp.25-41
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• 2009

본 연구는 30~50개월 사이의 발달지체 유아 3명을 대상으로 그룹리듬연주활동을 실시하여 모방 능력의 변화를 살펴 본 실험연구로 회당 20~25분씩 주3회, 총 20회기 동안 실시하였다. 프로그램은 총 네 단계로 나누어 사회적 음악 놀이(1-3회기), 유아의 악기 연주를 치료사가 모방하기(4-7회기), 치료사의 악기 연주를 유아가 모방하기(8-18회기), 활동의 복습 및 그룹원이 함께 연주하기(19-20)로 진행되었고 각 회기는 비디오로 녹화돼 연구의 조작적 정의에 따라 연구자 외 두 명의 음악치료사가 검토하였다. 그 결과 첫째, 그룹리듬연주에 따라 유아의 모방능력이 점차 향상되었고, 둘째, 그룹리듬연주의 난이도에 따라 유아들은 1박 모방에서 가장 많은 변화를 보였으며, 셋째, 치료사가 유아의 동작과 연주를 모방했던 3-7회기에 대부분의 유아들은 모방능력에 급진적인 변화가 나타나 타인인지능력의 향상과 더불어 모방 능력이 증진하였음을 알 수 있었다. 이러한 결과로 볼 때 그룹리듬연주활동은 유아의 모방능력을 향상시키며, 차후 복잡한 모방능력의 발달 가능성을 시사하고 있다.

• Journal of Genetic Medicine
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• 제16권1호
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• pp.1-9
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• 2019

Noonan syndrome (NS) and NS-related disorders (cardio-facio-cutaneous syndrome, Costello syndrome, NS with multiple lentigines, or LEOPARD [lentigines, ECG conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth and sensory neural deafness] syndrome) are collectively named as RASopathies. Clinical presentations are similar, featured with typical facial features, short stature, intellectual disability, ectodermal abnormalities, congenital heart diseases, chest & skeletal deformity and delayed puberty. During past decades, molecular etiologies of RASopathies have been growingly discovered. The functional perturbations of the RAS-mitogen-activated protein kinase pathway are resulted from the mutation of more than 20 genes (PTPN11, SOS1, RAF1, SHOC2, BRAF, KRAS, NRAS, HRAS, MEK1, MEK2, CBL, SOS2, RIT, RRAS, RASA2, SPRY1, LZTR1, MAP3K8, MYST4, A2ML1, RRAS2). The PTPN11 (40-50%), SOS1 (10-20%), RAF1 (3-17%), and RIT1 (5-9%) mutations are common in NS patients. In this review, the constellation of overlapping clinical features of RASopathies will be described based on genotype as well as their differential diagnostic points and management.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제17권4호
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• pp.209-213
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• 2014

Purpose: Pathologic aerophagia (PA) may lead to bowel perforation or volvulus in mentally retarded patients. The authors investigated the effects of clonazepam on the management of PA in children with severe to profound mental retardation (MR). Methods: This study was undertaken as a retrospective case analysis of 21 PA patients with MR who were followed for over 12 months and diagnosed as having PA. Patients were assigned to two management groups, that is, to a clonazepam randomized open-labeled, treatment group or a reassurance group. The following were recorded and analyzed; age, response, remission rate to clonazepam treatment, and the side effect of clonazepam. It was defined positive response (response+) as being symptom-free for a whole week within 1 month of commencing treatment and remission(+) as being symptom-free for a whole month within 6 months of treatment. Results: The average age of the 21 PA children with MR was 10 years and 13 patients were female. Symptom duration before diagnosis of PA was 7 months. Clinical features of the clonazepam-trial group (n=11) and the reassurance group (n=10) were non-significantly different. Response(+) was achieved by 2 patients (18.2%) in the clonazepamtrial group and by no patient in the reassurance group. Remission(+) was achieved by 6 patients (54.5%) in the clonazepam-trial group and by one patient (10%) in the reassurance group (p=0.040). Conclusion: When PA children with MR with severe bowel distention are considered for surgical treatment to prevent acute abdomen, a trial of clonazepam could be recommended.

• Journal of Genetic Medicine
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• 제7권1호
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• pp.45-52
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• 2010

목 적: 윌리암스증후군 아동의 인지와 관련된 두 가지 특성을 검증하고자 하였다; 윌리암스증후군 아동은 언어성 지능이 동작성 지능 보다 유의하게 높다; 윌리암스증후군 아동은 시공간기능의 선택적 저하를 보인다. 대상 및 방법: 평균연령 $90.86{\pm}20.73$개월의 5명의 윌리암스 증후군 아동의 인지적 특성을 연령 및 성별이 유사한 12명의 프라더윌리증후군 혹은 다운증후군 아동의 인지적 특성과 비교, 분석하였다. 결 과: 윌리암스증후군 아동에서 언어성 지능 항목의 합은 $15.71{\pm}9.27$, 동작성 지능 항목의 합은 $14.29{\pm}7.50$으로, 언어성 지능과 동작성 지능 간의 유의한 차이를 보이지 않았다. 윌리암스증후군, 프라더윌리증후군, 다운증후군 아동들간의 언어성 지능의 유의한 차이는 관찰되지 않았다. 윌리암스증후군 아동에서 시공간지각과 관여된 세부항목의 선택적 저하는 관찰되지 않았으나, 물체조합 항목에서 프라더윌리증후군 아동에 비하여 유의한 기능의 저하를 보였다. 결 론: 윌리암스증후군 아동이 전체 지능에 비하여 상대적으로 높은 언어성 지능을 보인다는 일반적인 개념은 본 연구에서는 관찰되지 않았다. 동시에 윌리암스증후군 아동은 프라더윌리증후군이나 다운증후군 아동과의 비교 시에도 우수한 언어기능을 보이지 않았다. 그러나 윌리암스증후군 아동은 프라더윌리증후군 아동과 비교 시 현저히 낮은 시공간기능을 보였다.

• 보건의료산업학회지
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• 제5권4호
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• pp.137-147
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• 2011

본 연구는 일부지역 장애아동 양육자의 정신과적 문제를 알아보기 위해 우울증 지수를 검사하고 분석함으로서 그 심각성을 확인하고 장애아동 양육자의 정신보건의 필요성을 알리기 위한 기초자료를 제공하는 데 목적이 있다. 본 연구는 2011년 8월부터 9월까지 경주 및 인근지역에서 지적장애아동과 지체장애아동을 둔 전업주부의 정신과적 문제를 알아보기 위해 양육 스트레스로 인한 우울증 정도를 알아보았다. 연구대상자는 3개의 치료기관 및 치료 관련기관에서 지적장애 또는 지체장애 아동을 양육하고 있는 부모 각 20명씩을 대상으로 하였다. 우울증 평가도구는 한국형 우울증 검사(Korean Depression Scale; KDS)를 이용하였다. 결과는 첫째, 지적장애아동과 지체장애아동 양육자 모두 우울증이 있는 것으로 나타났고 각각의 차이 비교에는 유의성이 없었다. 둘째, 지적장애아동과 지체장애아동 양육자의 우울증 세부항목에서는 의욕상실 부분에서만 유의성이 있었다. 셋째, 지적장애아동 양육자의 우울증 세부항목간의 비교에서는 유의성이 있었다. 넷째, 지체장애아동 양육자의 우울증 세부항목간의 비교에서는 유의성이 있었다. 다섯째, 지적장애아동 양육자의 우울증과 세부항목의 상관관계에서는 의욕상실에서 유의한 상관성이 있었다. 여섯째, 지체장애아동 양육자의 우울증과 세부항목의 상관관계에서는 의욕상실에서 유의한 상관성이 있었다. 본 연구에서는 두 장애아동의 양육자간 차이는 없었으며 우울증은 장애유형에 상관없이 모두 나타났다. 그리고 세부항목과 우울증의 상관성에서는 의욕상실에서 유의한 상관성을 보였다. 이것은 장애아동의 양육에서 치료의 지연으로 인한 의욕상실에서 우울증이 많이 유발됨을 알 수 있다.