• Clinical and Experimental Pediatrics
• /
• v.52 no.10
• /
• pp.1171-1174
• /
• 2009

Edwards syndrome, also called trisomy 18, is one of the most common autosomal anomalies. The survival rate of patients with Edwards syndrome is very low and its characteristic findings include cardiac malformations, mental retardation, growth retardation, specific craniofacial anomalies, clenched hands, rocker-bottom feet, and omphalocele. Compared with the classic Edwards syndrome, the symptom of partial duplication of chromosome 18 is relatively mild with a good prognosis. We report the case of a baby with partial duplication 18q11.2-q12. The characteristic phenotype features of Edwards syndrome were observed in the patient. However, the symptom was milder than the typical Edwards syndrome. At present, we can expect better prognosis for this patient.

• Journal of the korean academy of Pediatric Dentistry
• /
• v.31 no.1
• /
• pp.120-125
• /
• 2004

Cornelia de Lange syndrome is a disorder of unknown etiology resulting in an syndrome characterized by specific dysmorphic features. Therefore this syndrome is diagnosed only by clinical features and other examinations for diagnostic aim are not effective. There are general growth retardation, mental retardation, hypertrichosis, confluent eye brows, low hair line, broad nasal bridge, anteverted nose tip, malformed limbs, webbing of toes, heart defect, gastroesophageal reflux disease, ear and ocular problems. Features associated oral structures are micrognathia, delayed eruption of teeth, cleft lip, cleft plate, thin upper lip and downturned angles of mouth. These are cases about two children who visited Department of Pediatric Dentistry of Chonbuk National University because of dental caries with Cornelia do Lange syndrome.

• Journal of the korean academy of Pediatric Dentistry
• /
• v.35 no.2
• /
• pp.319-323
• /
• 2008

Edward's syndrome is a genetic disorder of 18th chromosomal trisomy. Main clinical features of this syndrome include systemic conditions, such as mental retardation, growth retardation, dyspnea, congenital heart disease, and orthopedic disorders, such as flexion deformity and rocker-bottom feet. The characteristics of fetal abnormality are hydramnios, small placenta, common umbilical artery. Infants with Edward's syndrome have very low survival rate. Almost half of them die during fetal stage. Fifty percent of them survive 2 months, and 5 to 10 percent of them survive about 1 year. A 3-year and 7 month old girl visited our dental hospital for the treatment of dental caries. Considering her systemic disease, low body weight, medical history of cardiac surgery, and difficulty in airway management, dental procedure was performed under general anesthesia. We report this case with review of literatures.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.15 no.3
• /
• pp.118-126
• /
• 2015

Background and objectives: A deficiency of BH4 (tetrahydrobiopterin) not only causes the classical phenylketonuric phenotype, but also is the source of neurological signs and symptoms due to impaired syntheses of L-Dopa and serotonin. The treatment of BH4 deficiency usually consists of replacement with BH4 and the neurotransmitters. We performed this study to finding out long-term follow-up clinical symptoms and prognosis of BH4 deficiency. Methods: Clinical and biochemical, genetic analysis were done retrospectively from January 1999 to July 2015 in Soonchunhyang University Hospital. Results: In our study, total 207 patients were confirmed to hyperphenylalaninemia. Among them, 10 patients were BH4 deficiency. 9 patients were 6-pyruvoyl-tetrahydropterin (PTPS) deficiency and one patient was dihydropteridine reductase (DHPR) deficiency. The patients who received delayed treatment, most of our patients suffered from severe psychomotor retardation, hypotonia and seizure. c.259C>T mutation was identified most commonly in PTPS gene analysis. A patient with DHPR deficiency had a mental retardation, dystonia, seizure. His seizure semiology was dialeptic feature. His EEG showed generalized spike wave patterns. All patients had treated with tolerate L-Dopa, BH4 and 5-hydroxytryptophan. Most of the early treated patients have a good tolerance for drugs well. But some patients had neurologic symptoms, despite early detection and treatment. Conclusion: BH4 deficiency patients who had delayed treatment tend to have severe psychomotor problem and neurologic deficits.

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

• Childhood Kidney Diseases
• /
• v.8 no.1
• /
• pp.57-62
• /
• 2004

Schinzel-Giedion syndrome is a rare, distinct dysmorphic syndrome characterized by congenital hydronephrosis, skeletal dysplasia, and severe developmental retardation, likely to be inherited as an autosomal recessive trait, but not yet confirmed. This syndrome is characterized by coarse facial features such as midfacial retraction, bulging forehead, short nose with anteverted nostrils, low-set malformed ears, protruding large tongue, and hypertelorism. Skeletal and limb defects, choanal stenosis, simian creases, hypospadias, microphallus, hypertrichosis, and intractable seizures are the frequently associated clinical findings. Urogenital involvement is a major component of the syndrome, and this problem sometimes is associated with nephrocalcinosis and urinary tract infection in the clinical course of the disease. We report a 22 month-old girl with Schinzel-Giedion syndrome complicated by medullary nephrocalcinosis and urinary tract infection due to Klebsiella pneumoniae. This patient had also been suffering from postnatal growth deficiency, intractable seizure, spastic tetraplegia, delayed development and severe mental retardation.

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

• Journal of the korean academy of Pediatric Dentistry
• /
• v.30 no.3
• /
• pp.341-347
• /
• 2003

Smith-Magenis syndrome (SMS) is a clinically recognizable multiple congenital anomaly and mental retardation syndrome caused by an interstitial deletion of chromosome 17 p11.2. Physical features include short stature, characteristic facial appearance: flattened mid-face, down-turned mouth, prominent and often rosy cheeks; prominent jaw in older children and adults, chronic ear infections, hearing impairment, eye problems, including: strabismus (an eye which turns in or out) and myopia (nearsightedness), hoarse voice, short fingers and toes, heart defects or murmurs, problems related to the urinary system, scoliosis (curvature of the spine), an unusual gait (walking pattern), and decreased sensitivity to pain. Behavioral and developmental characteristics include speech delay and articulation problems, developmental delay, learning disability, mental retardation, hyperactivity, self-injury, including: head banging; hand biting; picking at skin, sores and nails; pulling off finger- and toenails; inserting foreign objects into ears, nose, or other body orifices, explosive outbursts, prolonged tantrums, destructive and aggressive behavior, excitability, arm hugging or hand squeezing when excited. This report is the case of a Korean 3-year-3-month old male with Smith-Magenis syndrome referred from local clinic for the treatment of dental caries. The patient was treated by physical restraint after prophylatic administration of antibiotic(Amoxacillin 50mg/kg).

• Journal of The Korean Dental Society of Anesthesiology
• /
• v.12 no.1
• /
• pp.45-50
• /
• 2012

The Fontan operation is a heart operation used to treat complex congenital heart defects like tricuspid atresia, hypoplastic left heart syndrome, pulmonary atresia and single ventricle. A single ventricle is dedicated to pumping oxygenated blood to the systemic circulation and the entire systemic venous return reaches the pulmonary arterial system without the direct influence of a pumping chamber. In the patient with Fontan operation, it is important to achieve adequate pulmonary blood flow and cardiac output in anesthetic management. In this case, a 10-year-old boy (19.6 kg, 114 cm) with cleft palate, cerebral palsy and severe mental retardation, who underwent a Fontan operation when he was 4 years old, was presented for deep sedation. Because he was suffering from eating disorder with cleft palate, the orthodontist and the plastic surgeon planned to insert intraoral orthodontic device before cleft palate repair. But it was impossible to open his mouth for alginate impression procedure. After careful pre-anesthesia evaluation we planned to administer deep sedation with propofol infusion. After Intravenous catheter insertion, we started propofol intravenous infusion with the formula of a loading dose of 1.0 mg/kg followed by an infusion rate of 6.0 mg/kg/hr with syringe pump. His blood pressure was remained around 80/40 mmHg after loss of consciousness, but he could not maintain his airway patent. So we lowered the infusion rate to 3.0 mg/kg/hr, immediately. The oxygen saturation was maintained above 95% with nasal oxygen supply, and blood pressure was maintained around 100-80/60-40 mmHg. After the sedation of 110 minutes with propofol (the infusion rate to 3.0-5.0 mg/kg/hr), he fully regained consciousness, and was discharged without complication after 1 hour observation. In case of post-Fontan patient, intravenous deep sedation with propofol was safe and effective method of behavioral management during dental treatment.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
• /
• v.6 no.1
• /
• pp.100-108
• /
• 1995

The purpose of the present study was to examine whether Interpersonal Cognitive Problem Solving(ICPS) skill training would enhance interpersonal solving skills and behavioral adjustment of mildly mentally retarded adolescents in the junior and high school. The program used in the present study was shortened and adapted for mildly retarded adolescents from Shure and Spivack(1982) program which was developed to improve the adjustment of children in the intermediate grades 5-6. The subjects were 22 mildly retarded adolescents, and they were assigned to either the experimental(11) or the control group(11). The experimental group were given ICPS training 4 times a week over a period of 8 weeks with a total of 32 sessions in all. The results showed a significant improvement of alternative thinking and consequential thinking in the experimental group compared with the control group. With regard to behavioral ratings by the parents and teachers, there were no significant differences between the groups. The results indicated that the training was effective in increasing the ability to generate alternative solutions and to predict consequences, but the significant improvement of interpersonal cognitive problem solving skills did not lead to noticeable improvement in behavioral adjustment. It was suggested that a longer training period for over-learning, concomitant parent education program, and more behaviorally oriented social skill training combined with the cognitive approach would yield significant training effects, maintenance and transfer.