• Journal of Interdisciplinary Genomics
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• v.5 no.2
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• pp.24-28
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• 2023

Chromosomal microarray (CMA) is primarily recommended for detecting clinically significant copy number variants (CNVs) in the genetic diagnosis of developmental delay, intellectual disability, autism, and congenital malformations. Prenatal CMA is recommended when a fetus has major congenital malformations. The main principles of CMA can be divided into array comparative genomic hybridization and single-nucleotide polymorphism arrays. In the current CMA platforms, these two principles are combined, and detection of genetic abnormalities including CNVs and absence of heterozygosity is facilitated. In this review, I described practical assessment of CMA testing regarding to laboratory management of CMA, interpretation of CNVs, and special considerations for comprehensive genetic counseling.

• Journal of the Korean Society of Radiology
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• v.82 no.3
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• pp.749-755
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• 2021

Congenital defects of the pericardium, which are generally asymptomatic, are rare disorders characterized by complete or partial absence of the pericardium. Here, we report a rare case of a 19-year-old male who was incidentally diagnosed with congenital absence of the left pericardium during examination for symptoms of pneumothorax. Chest radiography and CT revealed a collapsed left lung without any evidence of trauma, no unusual findings of free air spaces along the right side of the ascending aorta, heart shifted toward the left side of the thorax, and a shallow chest. Subsequent thoracoscopy confirmed the absence of the left pericardium and displacement of the heart toward the left thoracic cavity. We further discuss the correlation between radiologic images and surgical findings of a congenital pericardial defect associated with spontaneous pneumothorax.

• Journal of Chest Surgery
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• v.18 no.3
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• pp.423-427
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• 1985

The Poland`s syndrome is very rare anomaly, which consists of congenital unilateral absence of the sternocostal part of the pectoralis major muscle, with ipsilateral hand deformities. The clinical features are variable but all patients have absence of at least the sternal head of the pectoralis major muscle. The syndrome is not hereditary and is of unknown origin. Early recognition of Poland`s syndrome may give the provision of psychologic and genetic counseling for anxious parents. We have encountered two patients with this entity, and one of them underwent successful surgical correction.

• Archives of Plastic Surgery
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• v.34 no.3
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• pp.406-408
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• 2007

Purpose: Despite a high frequency of acquired nail disease, congenital absence of the nail, also called as anonychia, is a rare anomaly. It may be seen as an isolated of phalangeal bone(ectrodactyly), nail-patella syndrome, birth trauma, impaired peripheral circulation, alopecia areata, and pemphigus, idiopathic atrophy of the nail, bullous drug eruptions, periodic shedding, lichen planus, Stenvens-Johnson syndrome and so forth. Methods: We have experienced a rare case of 40-day-old neonate, suffering from intrauterine growth retardation, but without familial history, chromosomal anomalies or any other diseases. Results: There was no nail on left 5th finger and distal phalangeal bone of same finger. So, We diagnosed as Congenital Anonychia with ectrodactyly of 5th Finger. Conclusion: We report this case as congenital anonychia of 5th finger which have developed from underlying distal phalangeal ectrodactyly. We also review other reported cased in the literatures.

• Journal of Trauma and Injury
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• v.26 no.1
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• pp.30-33
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• 2013

A 55-year-old woman was seen in the emergency department with posterior neck pain and a headache after a traffic accident. Physical examination revealed tenderness on palpation over the posterior skull and a midline spinous process of the cervical spine without neurologic deficit. A plain radiograph of the cervical spine demonstrated the absence of the lateral portion of the posterior arch of the atlas and very lucent shadowing of the anterior midline of the atlas, suggesting a fracture of the anterior arch. On three-dimensional computed tomography (CT) of the cervical spine, anterior and posterior bony defects of the atlas were noted. Well-corticated defects were noted with sclerotic change and with no evidence of soft tissue swelling adjacent to the bony discontinuities, consistent with a congenital abnormality. With conservative therapy, the patient gradually showed a lessening of the midline tenderness. Careful investigation with radiography or CT is needed for these patients to avoid confusion with a fracture, because these patients seldom need surgical treatment.

• Journal of the korean academy of Pediatric Dentistry
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• v.33 no.1
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• pp.122-130
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• 2006

Congenital Missing Teeth(hypodontia, oligodontia) is the developmental absence of one or more teeth. It has been reported as being the most common anomaly of dental development in human, relatively common in the permanent dentition. In a recent review, Vastardis has quoted incidence ranges of $1.6%{\sim}9.6%$ in the permanent dentition. Brook has quoted a prevalence of $3.5%{\sim}6.5%$ in most populations, with severe hypodontia, defined as the absence of six or more teeth, having a prevalence of $0.3{\sim}0.4%$. The most commonly affected teeth are third molars, followed by maxillary lateral incisor, and second premolars. The etiology is unknown, several hypotheses include trauma, nutritional deficiency, infection, metabolic abnormalities, systemic disease and genetic influence. The multiple congenital missing is commonly associated with specific syndrome or severe systemic abnormalities such as cleft lip & palate and Down's syndrome. These cases present that children have multiple congenital missing teeth in the permanent dentition, without any systemic disease. Management of this condition must be considered orthodontic and prosthodontic treatment comprehensively. In these cases, children were treated by space maintainer or orthodontic appliance and follow-up checked.

• Journal of Chest Surgery
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• v.15 no.2
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• pp.243-249
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• 1982

A persistent left superior vena cava draining into the left atrium associated with atresia of the coronary sinus-ostium, ASD, and PDA is a rare congenital anomaly. The patient was a 4 year-old female whose complaints were frequent URI and exertional dyspnea. The congenital heart anomaly was suspected at 2 months of her age. Chest films showed cardiomegaly [C-T ratio, 75%]. EKG, Echocardiography, cardiac catheterization and angiocardiography were performed. Open heart surgery was done under impression of LV-RA shunt, bilateral superior vena cavae, and ASD. At the time of operation, huge LA and RA, inferior vena caval defect of a secundum type ASD [1.5 x 3cm in diameter], absence of innominate vein, atresia of the coronary sinus-ostium, and persistent LSVC draining into LA were noted. Direct suture closure of ASD and ligation of LSVC were done. The patient`s postoperative course was somewhat eventful: systolic murmur at apex remained. Four months after the operation, congestive heart failure attacked a few times. PDA that was overlooked at the time of open heart surgery was detected through postoperative cardiac catheterization in.4 months later. Emergent operation for closure of PDA was performed on the day of recatheterization. After that, patient`s heart failure was easily controlled without any notable problem.

• Journal of Chest Surgery
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• v.18 no.2
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• pp.250-257
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• 1985

Despite low mortality and excellent long-term results after repair of Tetralogy of Fallot, certain associated anomaly such as single pulmonary artery continues to be told to have a high operative mortality and morbidity, and there is still some debate on appropriate surgical intervention. During the 4 year period from 1981 to 1984, surgical repair was performed on 5 patients with tetralogy of Fallot and congenital [4 cases] or acquired [1 case] absence of left pulmonary artery. Previous left pneumonectomy had been performed in the patient with acquired absence of a pulmonary artery. Transannular patch or RVOT patch alone with or without pulmonic valvotomy was used with some modifications to reduce pulmonic insufficiency in individual patient. In contrast with previous reports, all patients survived operation and have exhibited marked symptomatic improvement without pulmonic valve insertion nor valved conduit.

• Archives of Plastic Surgery
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• v.37 no.6
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• pp.831-834
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• 2010

Purpose: Congenital absence of the vagina is a rare case. It occurs as a result of Mullerian duct aplasia or complete androgen insensitivity syndrome. The reconstructive modality includes skin graft, use of intestine and various methods of flap. We report a patient who underwent vulvoperineal fasciocutaneous flap to reconstruct congenital absence of the vagina, while the external genitalia and ovaries are normal. Methods: A 26-year-old woman presented with vaginal agenesis. Under general anesthesia, a U-shaped incision was made between the urethral meatus and the anus. The new vaginal pocket was created up to the level of the peritoneal reflection between the urinary structures and the rectum. Next, the vulvoperineal fasciocutaneous flaps were designed in a rectangular fashion. Flap elevation was begun at the lateral margin which the adductor longus fascia was incised and elevated, and the superficial perineal neurovascular pedicle was invested by the fascial layer. The medial border was then elevated. A subcutaneous tunnel was created beneath the inferior of the labia to rotate the flaps. The left vulvoperineal flap was rotated counterclockwise and the right was rotated clockwise. The neovaginal pouch was formed by approximating the medial and lateral borders. The tubed neovagina was then transposed into the cavity. Results: In 3 weeks, the vaginal canal remained supple After 6 weeks, the physical examination showed normalappearing labia majora and perineum with an adequate vaginal depth. A year after the operation, the patient had a 7 cm vagina of sufficient width with no evidence of contractures nor fibrous scar formation. The patient was sexually active without difficulty. Conclusion: Although many methods were described for reconstruction of vaginal absence, there is not a method yet to be approved as a perfect solution. We used the vulvoperineal fasciocutaneous flap to reconstruct a neovagina. This method had a following merits: a single-stage procedure, excellent flap reliability, the potential for normal function, minimal donor site morbidity and no need for subsequent dilatation, stents, or obturators. We thought that this operation has a good anatomic and functional results for reconstruction of the vagina.

• Journal of Yeungnam Medical Science
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• v.40 no.2
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• pp.187-192
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• 2023

Background: This study aimed to present the short- and midterm outcomes after complete atrioventricular canal defect (CAVC) repair using a single-patch technique. Methods: This study included 30 children who underwent surgical correction of the CAVC using a single-patch technique. Results: The median age of the patients was 5.7 months (interquartile range [IQR], 5.0-7.5 months), and 23 patients (76.7%) had type A CAVC. Fourteen patients (46.7%) were female and 17 (56.7%) had been diagnosed with Down syndrome. The in-hospital mortality rate was 0%. No deaths were observed during a median follow-up of 4 years (IQR, 3.5-5.0 years). Patients without Down syndrome were associated with late moderate mitral regurgitation (MR) (p=0.02). Late MR less than moderate degree was observed in 96.6%, 78.5%, and 50% of patients after 2, 4, and 5 years of follow-up, respectively, while late tricuspid valve regurgitation less than moderate degree was observed in 96.7%, 85.9%, and 59.0% of patients after 2, 4, and 6 years of follow-up, respectively. After a median follow-up of 4 years, only one patient had required surgical repair of a left ventricular outflow tract obstruction, which occurred 26 months after the first operation. Multivariable logistic regression analysis adjusted for the type of CAVC, sex, Down syndrome, age, and weight revealed that the absence of Down syndrome was a risk factor for late moderate MR (MR-2) (odds ratio, 0.05; 95% confidence interval, 0.006-0.50; p=0.01). Conclusion: A single-patch technique for CAVC surgical repair is a safe method with acceptable short- and midterm results.