• Clinical and Experimental Pediatrics
• /
• v.57 no.6
• /
• pp.292-296
• /
• 2014

The deletion of the distal long arm of chromosome 1 is associated with a characteristic facial appearance and a pattern of associated malformations. Characteristic manifestations include a round face with prominent 'cupid's bow' and downturned corners of the mouth, thin vermilion borders of lips, a long upper lip with a smooth philtrum, a short and broad nose, epicanthal folds, apparently low-set ears, micrognathia, microcephaly, abnormal hands and feet, variable cardiac or genital anomalies, moderate to severe mental retardation, and growth retardation. Using fluorescent in situ hybridization (FISH) analysis to map precisely the deletion, we present a case of chromosome 1q44 deletion with craniofacial characteristics, multiple congenital anomalies, and growth and psychomotor retardation. In comparison with other reported cases of 1q43-44 deletion, the subject does not show hydrocephalus, seizure, syn- or polydactyly of hands, and a urogenital anomaly. However, an arachnoid cyst, pinpoint dimple on the midline of the forehead, a right-sided supernumerary nipple and auricular pit, polydactyly of the right foot, adducted thumb, and flexion restriction of the proximal interphalangeal joint with a simian line in both hands were observed additionally.

• Journal of Genetic Medicine
• /
• v.18 no.1
• /
• pp.48-54
• /
• 2021

Genetic imbalances are a major cause of congenital and developmental abnormalities. We report the first case of a 3p26 microdeletion and 5q35.2q35.3 microduplication in a newborn with multiple congenital anomalies evaluated using chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH). The patient was born at 30 weeks and 2 days of gestation with a body weight of 890 g. He had symmetric intrauterine growth restriction, microcephaly, facial dysmorphism (hypertelorism, blepharophimosis, mild low-set ears, high-arched palate, and micrognathia), and right thumb polydactyly. Echocardiography revealed an atrial septal defect and patent ductus arteriosus. Furthermore, CMA revealed a concurrent microdeletion in 3p26 and a microduplication in 5q35.2q35.3. FISH analysis showed that these genetic changes resulted from a translocation mutation between chromosomes 3 and 5. The patient's mother had mild intellectual disability, short stature, and facial dysmorphism, while his father had a normal phenotype. However, parental FISH analysis revealed that the asymptomatic father carried a balanced translocation of chromosomes 3p26 and 5q35. CMA and FISH tests are useful for diagnosing neonates with multiple congenital abnormalities. Further parental genetic investigation and proper genetic counseling are necessary in cases of chromosomal abnormalities inherited from parental balanced translocations.

• Child Health Nursing Research
• /
• v.13 no.1
• /
• pp.73-80
• /
• 2007

Purpose: As a result of dramatic advances in the medical and surgical management of congenital heart disease (CHD), many babies born with cardiac anomalies today can expect to reach adulthood. The main purpose of this study was to examine the relationship between parenting stress and personal resources of mothers of children with CHD. Method: Fifty-one mothers of children with CHD were recruited at the pediatric cardiac outpatient clinic from July 14th to September 25th 2006. Abidin's parenting stress index/short form (PSI/SF) and Brandt and Weinert's personal resource questionnaire (PRQ) were used. PSI has 3 sub-concepts; parental role distress, dysfunctional parent-child interaction, and difficult child. PRQ has 4 sub-concepts; intimacy, social integration, worth, and assistance. Data were analyzed using SPSS 13.0 version. Results: Correlation analysis showed that parenting stress was significantly related to 'intimacy', 'social integration', and 'worth' of mothers. Multiple regression analysis showed that parenting stress was significantly related to personal resource of mother and information by internet. Conclusion: Mothers who felt they had supportive friends and family, high self esteem, and social integration reported lower parenting stress. Also, internet may be an effective method to provide information and share experience for mothers of children with CHD.

• Journal of Veterinary Clinics
• /
• v.35 no.3
• /
• pp.114-118
• /
• 2018

A 3-month-old intact male Lakeland terrier was presented with recurring regurgitation after removing cervical esophageal foreign body by endoscopy. Blood and urine analysis, radiography, ultrasonography, fluoroscopic esophagography, computed tomographic angiography (CTA) were performed. In radiography and fluoroscopic esophagography, vascular ring anomaly was considered as the primary cause of megaesophagus, and CTA with gas-inflation of the esophagus was performed. Compressed esophagus, persistent right aortic arch (PRAA), aberrant left subclavian artery (LSA), and a venous structure which was confirmed in surgery to be incomplete type persistent left cranial vena cava (PLCVC) connected with the left side azygos vein were observed. Left deviation of the trachea was also revealed in CT, which implies the compression by left ligamentum arteriosum. Therefore, type 3 PRAA with left ligamentum arteriosum and aberrant LSA, was considered as a prior differential diagnosis. Surgical repair was performed and the clinical signs improved. This report describes CTA characteristics of combination of PRAA with aberrant LSA, incomplete PLCVC and Lt. azygos vein in a dog. Although not every vascular anomaly does induce clinical sign, some types can complicate the surgical procedure, and cause clinical signs. Therefore, thorough evaluation of vascular anomalies in the thorax is important, and CTA is a useful method in identifying multiple vascular anomalies in dogs.

• Clinical and Experimental Pediatrics
• /
• v.59 no.1
• /
• pp.16-23
• /
• 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
• /
• v.9 no.2
• /
• pp.89-92
• /
• 2012

Campomelic dysplasia (CMD) is a rare, often lethal, genetic disorder characterized by multiple congenital anomalies and abnormal development of the reproductive organs in males. Mutations in the SOX9 gene are known to cause CMD. We present a Korean CMD girl with a normal 46,XX karyotype and a female reproductive organ phenotype. She was born at 2.35 kg at 38 weeks of gestation and showed characteristic phenotypes, including cleft palate, micrognathia, hypertelorism, flat nasal bridge, congenital bowing of limbs, hypoplastic scapulae, deformed pelvis, and 11 pairs of ribs. She also had an atrioseptal defect of the heart and marked laryngotracheomalacia requiring tracheostomy and tracheopexy. SOX9 mutation analysis revealed the presence of a novel nonsense mutation, $p.Gln369^*$, and the patient was genetically confirmed to have CMD. Although she showed marked failure to thrive and neurodevelopmental delay, she is now 40 months of age and is the only surviving patient with CMD in Korea.

• Journal of Chest Surgery
• /
• v.34 no.11
• /
• pp.858-860
• /
• 2001

VATER is a complex anomaly of multiple organs and often combined with cardiac anomalies. However, it can be cured with active surgical intervention. We achieved successful result with aggressive surgery in the patient with VATER and report it with references.

• Annals of Hepato-Biliary-Pancreatic Surgery
• /
• v.27 no.2
• /
• pp.220-225
• /
• 2023

Congenital duplication of the extrahepatic bile duct (DEBD) is an unusual anomaly of the biliary system. It occurs due to inability of the embryological duplex biliary system to regress. DEBD has various subtypes depending on the morphology and opening of the aberrant common bile duct. It can have distinct complications. We encountered a 38-year-old lady who experienced pain in the right upper abdomen along with a low-grade fever. Magnetic resonance cholangiopancreatography revealed DEBD with multiple calculi in the right hepatic duct (ductolithiasis) and joining of the right hepatic duct with the left hepatic duct in the intrapancreatic region. Endoscopic retrograde cholangiography failed to clear the calculi from the right duct. They were then managed by common bile duct exploration and roux-en-Y right hepaticojejunostomy for biliary drainage. Her postoperative period was uneventful. She is currently doing well after three months of follow-up. Hence, a proper preoperative delineation of such rare anomalies is essential. It could avoid inadvertent injury to the bile duct and operative complications.

• Journal of Chest Surgery
• /
• v.22 no.4
• /
• pp.620-629
• /
• 1989

A clinical analysis of 138 cases of ventricular septal defect operated on from 1983 to June 1988 at the department of Thoracic and Cardiovascular Surgery, School of Medicine, Chung-nam National University was done. The following results were obtained. 1. The VSD were 27.6 % and 41.0 % respectively of 500 open heart surgery cases and 334 congenital heart disease. 2. The range of age when the VSD was repaired was 3 months to 45 years, the mean age was 10.4 years and the 53.6 % of patients were under 7 years. The sex ratio was 6:4 in males favor. 3. The two common symptoms were frequent upper respiratory infection and dyspnea whose frequency was 62.5 % and 58.7% respectively. 4. 52% of the patients was below 25 percentile of the standard body weight. 5. The most common chest PA findings were cardiomegaly and increased pulmonary vascularity. 6. On anatomical classification, perimembranous type was most common [65.5%], subpulmonary arterial type was 27.6 %, perimembranous plus subpulmonary arterial type was 3.4 % multiple VSD was 0.8 % and LV-RA defect was 2.6 %. 7. Associated cardiac anomalies were founded in 39 cases [35.5 %] and PDA and aortic valve prolapse were most common associated anomalies and extracardiac anomalies were founded in 6.7 % of patients. 8. Mean extracorporeal circulation time was 68 min. and mean aortic cross-clamping time was 42 min. 9. The postoperative complications developed in 26 % of patients and the most common one was minor wound infection. 10. Right bundle branch block developed in 54.8% of the patients who had right ventriculotomy, 40.0% of the patients who had right atriotomy and 10.5% of the patients who had pulmonary arteriotomy. 11. The overall operative mortality was 5.1 % and the operative mortality of the patients who body weigh under 10 Kg was 23.8%.

• Journal of Genetic Medicine
• /
• v.12 no.1
• /
• pp.44-48
• /
• 2015

Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the classic triad of congenital anomalies of the anus, thumbs, and ears, with variable expressivity. Additionally, renal malformations, cardiac anomalies, and endocrine and eye abnormalities can accompany TBS, although less frequently. TBS is inherited in an autosomal dominant fashion; however, about 50% of patients have a family history of TBS and the remaining 50% have de novo mutations. SALL1, located on chromosome 16q12.1, is the only causative gene of TBS. SALL1 acts as a transcription factor and may play an important role in inducing the anomalies during embryogenesis. Clinical features of TBS overlap with those of other multiple anomaly syndromes, such as VACTERL syndrome, Baller-Gerold syndrome, Goldenhar syndrome, cat eye syndrome, and Holt-Oram syndrome. Consequently, there are some difficulties in differential diagnosis based on clinical manifestations. Herein, we report a Korean family with two generations of TBS that was diagnosed based on physical examination findings and medical history. Although the same mutation in SALL1 was identified in both the mother and the son, they displayed different clinical manifestations, suggesting a phenotypic diversity of TBS.