• Clinical and Experimental Pediatrics
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• v.52 no.2
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• pp.242-246
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• 2009

The clinical features of ring chromosome 13 include mental and growth retardation, CNS anomalies, facial dysmorphism, cardiac defects, genital malformations, limb anomalies, skeletal deformities and anal malformations. Although many cases of ring chromosome 13 have been reported worldwide, only 6 cases have been reported in Korea, and the latter cases were not mosaic but pure ring chromosome 13. Here we report a case with mosaic ring chromosome 13. The baby boy was born at 37 weeks of gestation by induced vaginal delivery due to intrauterine growth restriction (IUGR). He was the second baby of a 28-year-old hepatitis B carrier mother and a 32-year-old father. There was no family history of chromosomal anomalies. The baby was a symmetric IUGR with a birth weight of 1,860 g, length of 44.8 cm, and head circumference of 29.4 cm. The physical examination revealed microcephaly, trigonocephaly, flat occiput, large ears, short neck and dysmorphic facial features, including microophthalmia, hypertelorism, antimongoloid slanting palpebral fissures, a flat nasal bridge, and micrognathia. The karyotype of this patient performed by peripheral blood lymphocytes was 46,XY,r(13)(p13q34)/45,XY,-13/46,XY,dic r(13;13)(p13q34;p13q34). The baby showed failure to thrive, hypotonia, and developmental delay. We report the first case of mosaic ring chromosome 13 in a male baby in Korea and compare this case with other Korean cases of non-mosaic ring chromosome 13.

• Journal of the Korean Child Neurology Society
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• v.26 no.4
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• pp.272-275
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• 2018

KBG syndrome is a rare neurodevelopmental disorder characterized by intellectual disability, skeletal anomalies, short stature, craniofacial dysmorphism, and macrodontia. ANKRD11 gene mutation and 16q24.3 microdeletion have been reported to cause KBG syndrome. Here, we report two patients with ANKRD11 mutations who initially presented with neurologic symptoms such as developmental delay and seizures. Patient 1 was a 23-month-old boy who presented with a global developmental delay. Language delay was the most dominant feature. He had hypertelorism, hearing impairment, and behavior problems characterized as hyperactivity. A c.1903_1907delAAACA (p.Lys635GInfsTer26) mutation in ANKRD11 was identified with diagnostic exome sequencing. Patient 2 was a 14-month-old boy with developmental delay and seizure. He also had atrial septum defect, and ventricular septal defect. Generalized tonic seizures began at the age of 8 months. Electroencephalography showed generalized sharp and slow wave pattern. Seizures did not respond to antiepileptic drugs. A loss of function mutation c.5350_5351delTC (p.ser1784HisfsTer12) in ANKRD11 was identified with diagnostic exome sequencing. In both cases, characteristic features of KBG syndrome such as short stature or macrodontia, were absent, and they visited the hospital due to neurological symptoms. These findings suggest that more patients with mild phenotypes of KBG syndrome are being recognized with advances in diagnostic exome sequencing genetic technologies.

• Clinical and Experimental Pediatrics
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• v.59 no.sup1
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• pp.19-24
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• 2016

Constitutional interstitial deletions of the long arm of chromosome 5 (5q) are quite rare, and the corresponding phenotype is not yet clearly delineated. Severe mental retardation has been described in most patients who present 5q deletions. Specifically, the interstitial deletion of chromosome 5q33.3q35.1, an extremely rare chromosomal aberration, is characterized by mental retardation, developmental delay, and facial dysmorphism. Although the severity of mental retardation varies across cases, it is the most common feature described in patients who present the 5q33.3q35.1 deletion. Here, we report a case of a de novo deletion of 5q33.3q35.1, 46,XY,del(5)(q33.3q35.1) in an 11-year-old boy with mental retardation; to the best of our knowledge this is the first case in Korea to be reported. He was diagnosed with severe mental retardation, developmental delay, facial dysmorphisms, dental anomalies, and epilepsy. Chromosomal microarray analysis using the comparative genomic hybridization array method revealed a 16-Mb-long deletion of 5q33. 3q35.1(156,409,412-172,584,708)x1. Understanding this deletion may help draw a rough phenotypic map of 5q and correlate the phenotypes with specific chromosomal regions. The 5q33.3q35.1 deletion is a rare condition; however, accurate diagnosis of the associated mental retardation is important to ensure proper genetic counseling and to guide patients as part of long-term management.

• Journal of Genetic Medicine
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• v.11 no.2
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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 Genetic Medicine
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• v.18 no.1
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• pp.64-69
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• 2021

Primary cilium has a signal transduction function that is essential for brain development, and also determines cell polarity and acts as a mediator for important signaling systems, especially the Sonic Hedgehog (SHH) pathway. TBC1D32 is a ciliary protein, implicated in SHH signaling. Biallelic mutations in the TBC1D32 gene causes a kind of ciliopathy, heterogeneous developmental or degenerative disorders that affect multiple organs, including the brain. Here we report a boy who carried compound heterozygous variants in TBC1D32. The patient showed hypotonia, respiratory difficulty, and multiple anomalies at his birth. He was diagnosed with congenital hypopituitarism and treated with T4, hydrocortisone, and growth hormone. Despite the hormonal replacement, the patient needed long-term respiratory support with tracheostomy and nutritional support with a feeding tube. His developmental milestones were severely retarded. Hydrocephalus and strabismus developed and both required surgery, during the outpatient follow-up. Whole-exome sequencing indicated compound heterozygous variants, c.2200C>T (p.Arg734^*) and c.156-1G>T, in TBC1D32 gene. This is the first Korean case of TBC1D32-related ciliopathy and we reported detailed and sequential clinical features. This case demonstrated the utility of whole-exome sequencing and provided valuable clinical data on ultra-rare disease.

• Journal of Korean Academy of Nursing
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• v.35 no.8
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• pp.1451-1460
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• 2005

Purpose. The purpose of this study was to evaluate the premature infants' responses to infant massage (tactile and kinesthetic stimulation). These responses measured by weight, physiological (vagal tone, heart rate, oxygen saturation) and behavioral responses (behavioral states, motor activities, and behavioral distress). Methods. This study was conducted using an equivalent control pretest-posttest design. The sample was divided into two groups of 13 infants with gestational age less than 36 weeks at birth, birth weight less than 2000g, and no congenital anomalies. The experimental group received the massage intervention twice daily for 10 days. The data were collected for 10 minutes prior to and 10 minutes after the massage. Results. The vagal tone was significantly higher after massage than before massage in the experimental group, while no change in the control group. The experimental group had significantly higher scores for awake state and motor activity than the control group. Significantly greater awake state, more fidgeting or crying, and increased motor activity were reported after massage than before massage. Conclusions. The results of this study showed that massage therapy might enhance optimal physiological responses and behavioral organization of premature infants. Nursing staff in the NICU can use massage to promote the infant's capability to respond positively to his environment and to provide developmental support for healthy premature infants.

• Journal of Chest Surgery
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• v.9 no.2
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• pp.287-292
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• 1976

This is a report of a case of congenital esophageal hiatus hernia, occurring in a younger child at the age of one year and two months. The child was suffered from vomiting (intermittently coffee-ground vomitus or blood-flecked vomitus), coughing, and high fever for about 3 months.Diagnosis was confirmed by the radiologic barium study of the gastrointestinal tracts. The herniated organs were entire stomach and a part of the transverse colon. They were located in the right chest. The etiologic pathology was mainly congenital developmental defect of the musculature of the diaphragm, forming the posterior margin of the esophgeal hiatus, and additionally slight shorted esophagus. After reduction of herniated organs back to the abdominal cavity through abdominal approach, herniorrhaphy was performed through transthoracic approach with modified Allison's procedure. At the same time, any associated anomalies, such as hypertrophic pyloric stenosis, were not seen. Postoperative course was uneventful.

• Clinical and Experimental Pediatrics
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• v.54 no.4
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• pp.179-182
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• 2011

Transient neonatal diabetes mellitus (TNDM) is a rare form of diabetes mellitus that presents within the first 6 months of life with remission in infancy or early childhood. TNDM is mainly caused by anomalies in the imprinted region on chromosome 6q24; however, recently, mutations in the ABCC8 gene, which encodes sulfonylurea receptor 1 (SUR1), have also been implicated in TNDM. Herein, we present the case of a male child with TNDM whose mutational analysis revealed a heterozygous c.3547C>T substitution in the ABCC8 gene, leading to an Arg1183Trp mutation in the SUR1 protein. The parents were clinically unaffected and did not show a mutation in the ABCC8 gene. This is the first case of a de novo ABCC8 gene mutation in a Korean patient with TNDM. The patient was initially treated with insulin and successfully switched to sulfonylurea therapy at 14 months of age. Remission of diabetes had occurred at the age of 16 months. Currently, the patient is 21 months old and is euglycemic without any insulin or oral hypoglycemic agents. His growth and physical development are normal, and there are no delays in achieving neurological and developmental milestones.

• Journal of Genetic Medicine
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• v.11 no.1
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• pp.36-39
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• 2014

Chromosome 3 (3p) deletion syndrome is a rare genomic disorder caused by a deletion at the terminal end of the short arm of chromosome 3. The primary characteristics of the syndrome are delayed development, dysmorphic features, and several other congenital anomalies. Here, we describe the case of a 2-year-old Korean girl with typical features of 3p deletion syndrome, including dysmorphic facial features, low birth weight, developmental delay, growth and cognitive retardation, and congenital heart disease. This case represents the first report of 3p deletion syndrome in Korea. Although phenotypes can be variable among patients, a clinically recognizable pattern has been described for this genetic defect, and our report helps to identify other cases with 3p deletion syndrome from a clinical and genetic perspective.

• Korean Journal of Head & Neck Oncology
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• v.13 no.2
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• pp.247-250
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• 1997

Bronchogenic cysts are thought to be uncommon developmental anomalies. They develop from small buds or diverticuli that separate from the foregut in the formation of the tracheo-bronchial tree. They are nearly always located near the tracheal bifurcation; However, these lesions can occur anywhere along the tracheo-bronchial tree. We experienced a case of cervical bronchogenic cyst presenting sorely as an anterior neck mass in a 26-year-old woman. The neck ultrasonography showed as $1.4{\times}1.1cm$ sized hypoechoic lesion with a well-defined margin on the isthmic portion of the thyroid gland. Excision of the mass was carried out. The mass was superfical to the strap muscle and was contained within the subcutaneous tissue in the midline without any connection to the trachea. Grossly, the mass was an oval-shaped cystic lesion which measured 1.5 cm in the greatest diameter. The cyst was filled with thick, yellow, jelly-like material and the inner surface was smooth and glistening. Microscopically, the cyst showed a lining of ciliated columnar epithelium, beneath which was a loose areolar stroma containing plaques of mucous glands and mature cartilage. We thought this cervical bronchogenic cyst appeared to represent an expression of complete aberrent accessory lung bud detachment from the primitive foregut.