• Journal of The Korean Dental Society of Anesthesiology
• /
• v.13 no.1
• /
• pp.13-18
• /
• 2013

CATCH 22 syndrome is a one of the most common chromosome microdeletion syndrome with multiple organ anomalies in humans, with an incidence of approximately 1:4,000 to 1:5,000 live births. It is caused by a microdeletion of 1.5 to 3.0 megabases on the long arm of chromosome 22. The phenotypic spectrum of this disorder is wide and various. A 19-year-old patient who showed delayed growth and development (Height; 110 cm, Weight; 18 kg) was referred to our department for the treatment of dental cavities. She was diagnosed as CATCH 22 syndrome in 2004. Physical examination revealed hypertelorism, a short philtrum, thick reflected lips and a small mouth. She underwent cleft palate surgery at 1 year of age and heart valve surgery due to the cardiovascular abnormality at 13 years of age. Convulsive seizures had persisted until 5 years ago but are well controlled at present. Oral examination showed poor oral hygiene, crowding, prolonged retention on #65, 75 and dental cavities on #16, 21, 65, 26, 36, and 46. Cavity treatment and prophylaxis were performed under general anesthesia. Also continuous follow-up checks have been carrying out with the periodic prophylaxis and dental home education. Problems with numerous cavities and gingivitis which can lead to specific risks are common for CATCH 22 syndrome patients. It is therefore of great importance that these patients are referred to foremost physician and dental specialist for the oral care. In addition, preventive treatment targeting the risk of dental cavities and gingivitis is especially important and, as the syndrome involves many different medical problems, the dental treatment should be carried out in collaboration with the patient's physician.

• Journal of Genetic Medicine
• /
• v.16 no.2
• /
• pp.85-89
• /
• 2019

Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive urea cycle disorder. HHH is caused by a deficiency of the mitochondrial ornithine transporter protein, which is encoded by the solute carrier family 25, member 15 (SLC25A15) gene. Recently, government supported Korean newborn screening has been expanded to include a tandem mass spectrometry (MS/MS) measurement of ornithine level. We report a case of a neonate with HHH syndrome showing a normal MS/MS measurement of ornithine level. A female newborn was admitted to neonatal intensive unit due to familial history of HHH syndrome. Her parents were consanguineous Parkistani couple. The subject's older sister was diagnosed with HHH syndrome at age of 30 months based on altered mental status and liver dysfunction. Even though the subject displayed normal ammonia and ornithine levels based on MS/MS analysis, a molecular test confirmed the diagnosis of HHH syndrome. At 1 month of age, amino acid analysis of blood and urine showed high levels of ornithine and homocitrulline. After 11 months of follow up, she showed normal growth and development, whereas affected sister showed progressive cognitive impairment despite no further hyperammonemia after protein restriction and standard therapy. Our report is in agreement with a previous Canadian study, which showed that neonatal samples from HHH syndrome patients demonstrate normal ornithine levels despite having known mutations. Considering the delayed rise of ornithine in affected patients, genetic testing, and repetitive metabolic testing is needed to prevent patient loss in high risk patients.

• Journal of the korean academy of Pediatric Dentistry
• /
• v.45 no.1
• /
• pp.115-122
• /
• 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
• /
• v.59 no.sup1
• /
• pp.25-28
• /
• 2016

Phelan-McDermid syndrome is a rare genetic disorder caused by the terminal or interstitial deletion of the chromosome 22q13.3. Patients with this syndrome usually have global developmental delay, hypotonia, and speech delays. Several putative genes such as the SHANK3, RAB, RABL2B, and IB2 are responsible for the neurological features. This study describes the clinical features and outcomes of Korean patients with Phelan-McDermid syndrome. Two patients showing global developmental delay, hypotonia, and speech delay were diagnosed with Phelan-McDermid syndrome via chromosome analysis, fluorescent in situ hybridization, and multiplex ligation-dependent probe amplification analysis. Brain magnetic resonance imaging of Patients 1 and 2 showed delayed myelination and severe communicating hydrocephalus, respectively. Electroencephalography in patient 2 showed high amplitude spike discharges from the left frontotemporoparietal area, but neither patient developed seizures. Kidney ultrasonography of both the patients revealed multicystic kidney disease and pelviectasis, respectively. Patient 2 experienced recurrent respiratory infections, and chest computed tomography findings demonstrated laryngotracheomalacia and bronchial narrowing. He subsequently died because of heart failure after a ventriculoperitoneal shunt operation at 5 months of age. Patient 1, who is currently 20 months old, has been undergoing rehabilitation therapy. However, global developmental delay was noted, as determines using the Korean Infant and Child Development test, the Denver developmental test, and the Bayley developmental test. This report describes the clinical features, outcomes, and molecular genetic characteristics of two Korean patients with Phelan-McDermid syndrome.

• Clinical and Experimental Pediatrics
• /
• v.49 no.5
• /
• pp.565-569
• /
• 2006

Rothmund-Thomson syndrome (RTS), is a rare autosomal recessive disorder, characterized by : skin photosensitivity, poikiloderma, sparse hair, sparse eyebrows/lashes, short stature, skeletal abnormalities, cataracts, and an increased risk of malignancy. Skeletal abnormalities include : dysplasia, absent or malformed bones, such as absent radii, osteopenia, and delayed bone formation. RTS is thought to result from chromosomal instability, and children with RTS are at risk of cancer. Reported cancers in children with RTS include : basal cell carcinoma, squamous cell carcinoma of the skin and osteosarcoma of bone. We report an 11 year-old boy, who presented to our institution with poikilodermatous skin change with telangiectasia and hyperpigmentation, absence of radius and thumb, and the development of osteosarcoma of the left tibia. The patient is now receiving supportive care and is receiving maintenance chemotherapy after surgery for osteosarcoma.

• Clinical and Experimental Pediatrics
• /
• v.53 no.10
• /
• pp.863-871
• /
• 2010

The prevalence of pediatric obstructive sleep apnea syndrome (OSAS) is approximately 3% in children. Adenotonsillar hypertrophy is the most common cause of OSAS in children, and obesity, hypotonic neuromuscular diseases, and craniofacial anomalies are other major risk factors. Snoring is the most common presenting complaint in children with OSAS, but the clinical presentation varies according to age. Agitated sleep with frequent postural changes, excessive sweating, or abnormal sleep positions such as hyperextension of neck or abnormal prone position may suggest a sleep-disordered breathing. Night terror, sleepwalking, and enuresis are frequently associated, during slow-wave sleep, with sleep-disordered breathing. Excessive daytime sleepiness becomes apparent in older children, whereas hyperactivity or inattention is usually predominant in younger children. Morning headache and poor appetite may also be present. As the cortical arousal threshold is higher in children, arousals are not easily developed and their sleep architectures are usually more conserved than those of adults. Untreated OSAS in children may result in various problems such as cognitive deficits, attention deficit/hyperactivity disorder, poor academic achievement, and emotional instability. Mild pulmonary hypertension is not uncommon. Rarely, cardiovascular complications such as cor pulmonale, heart failure, and systemic hypertension may develop in untreated cases. Failure to thrive and delayed development are serious problems in younger children with OSAS. Diagnosis of pediatric OSAS should be based on snoring, relevant history of sleep disruption, findings of any narrow or collapsible portions of upper airway, and confirmed by polysomnography. Early diagnosis of pediatric OSAS is critical to prevent complications with appropriate interventions.

• Proceedings of the Korean Society of Crop Science Conference
• /
• 2019.09a
• /
• pp.22-22
• /
• 2019

Green stem disorder (GSD) of soybean (Glycine max (L.) Merr.) is characterized by delayed senescence of stems with normal pod ripening and seed maturation (Hobbs, 2006). GSD complicates harvesting of soybeans by significantly increasing the difficulty in cutting the affected plants. There is also the potential for moisture in the stems to be scattered on the seed, reducing the grade and storability of the seed. Not only the cause of GSD is yet unknown, but also GSD cannot be evaluated until maturity, therefore the method to evaluate GSD in early growth stage with high sensitivity is necessary. In previous studies, it has been reported that vegetative storage protein (VSP) accumulates and the syndrome of GSD appears in soybean after depod treatment (Fischer, 1999). Soybean VSP is a storage protein which is abundant in young sink leaves and degraded during seed fill (Wittenbach, 1982). Hence, we have established a system to quantify VSP of high sensitivity by using standard protein made by genetically transformed E. coli and specific antibody against VSP, and studied the relationship between VSP and GSD, by depod experiment and drought/excess wet experiments. The result of depod experiment with the cultivar 'Yukihomare' was the same with the previous studies, VSP accumulated much more than control and the syndrome of GSD appeared in soybean in depod treatment. Drought and excess wet had different impact on GSD. Excess wet caused GSD of the cultivar 'Tachinagaha (GSD susceptible)', while drought caused a little syndrome of GSD in the cultivar 'Touhoku 129 (GSD resistant)'. The accumulation of VSP differed between the two cultivars over time. In conclusion, the accumulation of VSP came along with the emergence of GSD. Different cultivars showed different response to drought and excess wet. In the future, it is expected that the dynamics of VSP will be elucidated in detail, leading to the development of early diagnosis technology for green stem disorder and the elucidation of mechanism of soybean GSD.

• Therapeutic Science for Rehabilitation
• /
• v.2 no.1
• /
• pp.87-91
• /
• 2013

Objective : This case study examined the evaluation of occupational therapy and plan to intervention of community asperger syndrome child receiving coping model. Methods : We selected child which 7-year-old boy. Evaluation periods were 2weeks which consisted of external factors and internal factors. External factors were made up interaction of subject, environments and participation of school and community. Internal factors were made up observation and structured evaluation about development state and medical conditions. Also it included observation of appropriate mood and emotions. Results : After evaluation receiving coping model, we planed to intervention. First, subject able to use his time effectively. Second, we'll have intervention program about delayed fine motor areas. Third, we'll educate self-control skills and coping skills of subject's action which not controlled himself. Fourth, we'll find the personal and physical sources to care subject. Conclusion : Our research has planed occupational therapy intervention receiving coping model of asperger syndrome subject. Future research need to practical applications.

• Journal of the korean academy of Pediatric Dentistry
• /
• v.43 no.3
• /
• pp.313-319
• /
• 2016

Wolf-Hirschhorn syndrome (WHS), associated with the deletion of the short arm of chromosome 4, causes multiple congenital malformations. Patients suffer from various deformities, including mental and growth disorders, epilepsy, hypotonia, congenital heart defects, and atypical craniofacial features. The "Greek warrior helmet appearance" is the most characteristic feature, with a prominent glabella, high arched eyebrow, broad nasal bridge, and hypertelorism. Cleft lip with or without cleft palate is observed in 30% of patients. Dental structure anomalies also exist including multiple tooth agenesis and over-retained primary molars caused by MSX1 gene impairment, and cone-shaped and taurodontic teeth. This case, a 9-year-old girl with WHS, showed intellectual disability, delayed growth development, previous occurrence of seizures, otitis media, and the typical facial features of WHS. Dental findings included multiple congenital missing teeth, over-retained primary teeth, and severe caries on the primary molars. Dental treatments were performed under general anesthesia. This report documents the characteristics of WHS, including general and oral features, and discusses the importance of oral hygiene and preventive dental management.

• The Journal of Korea Assosiation for Disability and Oral Health
• /
• v.15 no.1
• /
• pp.65-69
• /
• 2019

Wolf-Hirschhorn syndrome(WHS) is a congenital disorder caused by deletions of the short arm of chromosome 4. The most common characteristics are mental and growth retardation, dietary disorder and craniofacial features with a characteristic 'Greek warrior helmet' appearance. The dental characteristic of WHS includes delayed development, tooth agenesis, clefts, microdontia, taurodontism, and severely worn dentition. The purpose of this case report is to describe the dental treatment of a patient with WHS. 3-year-old boy with WHS visited the Seoul National University Dental Hospital for dental treatment. He had difficulty with nasotracheal intubation because of craniofacial anomalies and also had poor oral hygiene due to a limitation of mouth opening and dietary disorder. Due to his airway problem, behavior management and severity of dental conditions, dental treatment was performed under general anesthesia. This case suggests general anesthesia can be chosen with WolfHirschhorn syndrome patients to safely care for their dental problems.