• Neonatal Medicine
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• v.16 no.1
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• pp.89-93
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• 2009

Maternal diabetes is known to have teratogenic effects which increase the risk for congenital anomalies, such as caudal dysplasia, cardiac defects, hydronephrosis, and small left colon syndrome. Infants of diabetic mothers have a 10-fold higher frequency of anomalies in the central nervous system and a 5-fold higher frequency of congenital heart defects. However, jejunal atresia combined with multiple anomalies of the face, ears, and hands has rarely been reported. Herein we report a neonate born to a diabetic mother, who had hemifacial microsomia, displacement of the lacrimal ducts, polydactyly of the right hand, microtia of the right ear and proximal jejunal atresia presenting as bile regurgitation on the 1st day of life.

• Genomics & Informatics
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• v.15 no.3
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• pp.82-86
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• 2017

Chromosomal microarray (CMA) is a high-resolution, high-throughput method of identifying submicroscopic genomic copy number variations (CNVs). CMA has been established as the first-line diagnostic test for individuals with developmental delay (DD), intellectual disability (ID), autism spectrum disorders (ASDs), and multiple congenital anomalies (MCAs). CMA analysis was performed in 42 Korean patients who had been diagnosed with unexplained DD, ID, ASDs, and MCAs. Clinically relevant CNVs were discovered in 28 patients. Variants of unknown significance were detected in 13 patients. The diagnostic yield was high (66.7%). CMA is a superior diagnostic tool compared with conventional karyotyping and fluorescent in situ hybridization.

• Korean Journal of Clinical Laboratory Science
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• v.39 no.2
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• pp.63-67
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• 2007

A ring, monosomy and marker chromosome 13 was found in a 14 months old male with multiple congenital anomalies which suggested the deletion 13 syndrome. He presented development retardation, mental retardation, syndactyly of thumbs, xeroderma, dyspnea, dyslogia and face deformity diagnosed by chromosomal analysis using synchronized G-banding technique which revealed of 46,XY,r(13)(p13q34)[48]/45,XY,-13[28]/46,XY,-13,+mar[13]. We report this case with a brief review of the correlation between clinical features and the observed 13 polymorphism chromosome.

• Clinical and Experimental Pediatrics
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• v.58 no.7
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• pp.256-262
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• 2015

Purpose: Kabuki syndrome is a multiple congenital malformation syndrome, with characteristic facial features, mental retardation, and skeletal and congenital heart anomalies. However, the cardiac anomalies are not well described in the Korean population. We analyzed the cardiac anomalies and clinical features of Kabuki syndrome in a single tertiary center. Methods: A retrospective analysis was conducted for a total of 13 patients with Kabuki syndrome. Results: The median age at diagnosis of was 5.9 years (range, 9 days to 11 years and 8 months). All patients showed the characteristic facial dysmorphisms and congenital anomalies in multiple organs, and the diagnosis was delayed by 5.9 years (range, 9 days to 11 years and 5 months) after the first visit. Noncardiac anomalies were found in 84% of patients, and congenital heart diseases were found in 9 patients (69%). All 9 patients exhibited left-side heart anomalies, including hypoplastic left heart syndrome in 3, coarctation of the aorta in 4, aortic valve stenosis in 1, and mitral valve stenosis in 1. None had right-side heart disease or isolated septal defects. Genetic testing in 10 patients revealed 9 novel MLL2 mutations. All 11 patients who were available for follow-up exhibited developmental delays during the median 4 years (range, 9 days to 11 years 11 months) of follow-up. The leading cause of death was hypoplastic left heart syndrome. Conclusion: Pediatric cardiologist should recognize Kabuki syndrome and the high prevalence of left heart anomalies with Kabuki syndrome. Genetic testing can be helpful for early diagnosis and counseling.

• Journal of Chest Surgery
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• v.24 no.8
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• pp.819-823
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• 1991

The congenital cystic adenomatoid malformation of the lung is a rare disease, and is one of the most common congenital lung diseases which require prompt surgical intervention. The prognosis depends on its tissue type, prompt diagnosis and surgical intervention. The lesion consists of enlarged, variable sized multiple cyst with overgrowth of terminal bronchioles, like hamartoma. This disease can be associated with other vascular anomalies or other congenital defect especially in type II lesion We recently experienced one case of congenital cystic adenomatoid malformation The patient was 2 months old infant who showed respiratory distress without associated anomaly. After right upper lobe lobectomy, the patient was recovered uneventfully.

• Journal of Yeungnam Medical Science
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• v.39 no.2
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• pp.161-167
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• 2022

Congenital web formations are extremely rare anomalies of the extrahepatic biliary tree. We herein report a case of common bile duct septum combined with multiple intrahepatic bile duct strictures in a 74-year-old female patient who was successfully treated with radiological intervention. The patient initially visited the hospital because of upper abdominal pain. Imaging studies revealed multifocal strictures with dilatation in both intra- and extrahepatic ducts; the final clinical diagnosis was congenital common bile duct web combined with multiple intrahepatic duct strictures. Surgical treatment was not indicated because multiple biliary strictures were untreatable, and the disease was clinically diagnosed as benign. The multiple strictures were extensively dilated twice through bilateral percutaneous transhepatic biliary drainage (PTBD) for 2 months. After 1 month of observation, PTBD catheters were successfully removed. The patient is doing well at 6 months after completion of the radiological intervention, with the maintenance of normal liver function. Congenital web of the bile duct is very rare, and its treatment may vary depending on the patterns of biliary stenosis. In cases where surgical intervention is not indicated for congenital web and its associated disease, radiological intervention with balloon dilatation can be a viable therapeutic option.

• Clinical and Experimental Pediatrics
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• v.46 no.3
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• pp.291-294
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• 2003

Ring chromosome 21 causes a multitude of phenotypes, ranging from severe abnormalities to normal. The proposed mechanism of ring formation, breakage of both short and long arms of a chromosome with subsequent end to end fusion, remains unproven. We encountered a 4-year-old boy who presented developmental delay, microcephaly, micrognathia, hypertelorism, low-set ears, mild optic nerve hypoplasia, cleft lip and palate, scoliosis and left foot valgus, but normal brain MRI. Chromosome study from peripheral blood showed 46,XY, r(21)(p11.2q22.1) karyotype. The authors report the first case of ring chromosome 21 in Korea with a review of the literature.

• Proceedings of the Korean Society of Veterinary Pathology Conference
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• 2002.11a
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• pp.138-138
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• 2002

A 10-day old male calf exhibited multiple congenital anomalies of the urinary and gastrointestinal tracts, including renal fusion (horseshoe kidney), ureteral fusion, rectovesicular fistula, and atresia ani. The single kidney was fused at the caudal poles. The left kidney and cranial half of right kidney were shrunken, while the remaining lobules were hypertrophic. Ureters were fused cranially and bifurcated caudally. The terminal rectum was narrowed and connected with the bladder. The anus was imperforate. The cause of these anomalies could not be determined. This is the first report of this constellation of congenital anomalies in a calf.

• Korean Journal of Veterinary Research
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• v.51 no.1
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• pp.63-67
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• 2011

Supernumerary ectopic limb(s) (SEL) is a congenital anomaly defined as the presence of accessory limb(s) attached to various body regions. This paper describes a case of SEL with ectopic lung and ectopia cordis in a newborn calf, based on macroscopic, microscopic and radiographic findings. External features of multiple congenital anomalies included an ectopic lung growing over the middle of the backbone and covered with normal haired skin. Ectopia cordis was found in the abdominal cavity and attached to the liver. Two extra abnormal limbs originated separately from within the ectopic lung. Most of the abdominal organs were exposed to the outside through the opened abdominal cavity. Microscopically the ectopic lung tissue had edema in the connective tissue around the bronchus and artery. Changes in other organs included congestion of the renal medulla, infiltration of inflammatory cells (lymphocytes and eosinophils) around the hepatic portal tract, and edema surrounding blood vessels and neurons in the brain. The rudimentary humerus of the forelimb was attached to the thoracic spine, as viewed radiographically. The hindlimb was consisted of an irregularly shaped femur, short tibia and fibula, two tarsal bones, one metatarsal bone, and three phalanges. This is the first description of congenital anomalies involving the SEL, ectopic lung and ectopia cordis in a calf.

• Neonatal Medicine
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• v.15 no.2
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• pp.200-206
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• 2008

Human chromosome 9 is characterized by a high degree of morphologic heteromorphisms, including variation in the size of the heterochromatin. We present a case of a de novo short arm addition of chromosome 9, [46, XY, add(9)(p13)], associated with multiple anomalies, including trigonocephaly, upward slant of the palpebral fissures, patent ductus arteriosus, pulmonary hypertension, hypertrophic cardiomyopathy, umbilical hernia, ambiguous genitalia, and sensorineural hearing and visual loss. This mutation affects the pericentric region of the heterochromatin. This patient exhibited a clinically important breakpoint of the heterochromatic region of chromosome 9 short arm and the associated anomalies.