• Journal of Chest Surgery
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• v.30 no.1
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• pp.108-111
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• 1997

Congenital unilateral agenesis of pulmonary artery is a rare anomaly and it usually occurs in association with other cardiac anomaly such as tetralogy of Fallot. Since most patients affected by this defect without associated congenital cardiac anomaly or pulmonary Infection are asymptomatic, the clinical diagnosis of this anomal is first recognized by a characteristic pattern in chest roentgenogram taken as a routine checking; the findings on chest film consists of cardiac and mediastinal displacement, absence of the pulmonary arterial shadow, smaller hemithorax, and elevationof the hemidiaphragm, all on the affected side. We experienced rlght pulmonary artery agenesis in a 48 year-old male, who complained of massive hemoptysis, and it was diagnosed by digital subtraction pulmonary arteriogram and perfusin scan, and treated by right middle and lower lobe bi-lobectomy, and we report this case with the review of relevant literatures.

• Journal of Chest Surgery
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• v.40 no.1 s.270
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• pp.52-55
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• 2007

Unilateral pulmonary artery agenesis is a rare congenital malformation usually associated with other cardiovascular anomaly such as Tetralogy of Fallot. Isolated pulmonary artery agenesis is very rare, and usually asymptomatic. It is usually highly suspected by routine chest X-ray, and associated symptoms are hemoptysis, blood tinged sputum, repeated pulmonary infection, and dyspnea on exertion. We have recently experienced the right pulmonary artery agenesis in 27 year-old male patient, complaining of minimal hemoptysis and sustained blood tinged sputum. He was successfully treated by right pneumonectomy, so we report this case with the review of associated literature.

• Clinical and Experimental Reproductive Medicine
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• v.48 no.1
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• pp.85-90
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• 2021

We present data from three Caucasian men with Zinner syndrome who attended our center for the treatment of primary couple's infertility. Each patient was scheduled for conventional testicular sperm extraction (cTESE) and cryopreservation. Sperm analysis confirmed absolute azoospermia. Patient 1 had right and left testis volumes of 24 mL and 23 mL, respectively; left seminal vesicle (SV) agenesis, severe right SV hypotrophy with right renal agenesis. Follicle-stimulating hormone (FSH) was 3.2 IU/L. Patient 2 exhibited right and left testis volumes of 18 mL and 16 mL, respectively; a left SV cyst of 32 × 28 mm, ipsilateral kidney absence, and right SV agenesis. FSH was 2.8 IU/L. Patient 3 showed a testicular volume of 10 mL bilaterally, a 65 × 46 mm left SV cyst, right SV enlargement, and left kidney agenesis. FSH was 32.0 IU/L. Sperm retrieval was successful in all patients. Nevertheless, cTESE should be performed on the day of oocyte retrieval.

• Korean Journal of Cleft Lip And Palate
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• v.10 no.2
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• pp.81-88
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• 2007

Cleft lip and palate (CLP) is one of the most prevalent congenital craniofacial anomalies. It has a significantly greater incidence of dental abnormalities in number, size, shape, and eruption of the teeth. Knout-out mouse model can identify several genes which play an important role in tooth agenesis. Since disruption of these genes has been confirmed to result in tooth agenesis in humans, CLP associated with hypodontia may be the best models for isolated tooth agenesis. According to the studies of dental abnormalities in CLP, the severity of dental defect is known to be influenced by the CLP phenotype. The cumulative data obtained from mouse and human genetic studies indicated that MSX1, PAX9 and AXIN2 are considered as candidate genes in non-syndromic hypodontia, while Shh, Pitx2, Irf6, p63 and EDA pathway genes are involved in syndromic one. We expect that genetic approach of CLP can offer the basis for tooth regeneration and be a new target in hypodontia therapy.

• Investigative Magnetic Resonance Imaging
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• v.19 no.3
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• pp.196-199
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• 2015

Obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) syndrome is an uncommon congenital abnormality of the female urogenital tract characterized by the triad of uterine didelphys, obstructed hemivagina, and ipsilateral renal agenesis. A 13-year-old female presented with acute lower abdominal pain. Magnetic resonance imaging (MRI) revealed uterine didelphys, hematometrocolpos, obstructed hemivagina, and right ipsilateral agenesis, consistent with OHVIRA syndrome. Also, a well-defined mass with fluid signal intensity, mimicking adnexal neoplasm was seen in the right lower pelvic cavity adjacent to the posterior wall of the bladder. Vaginal septotomy and drainage of hematometrocolpos were done initially, but unilateral hysterectomy was later performed to relieve the patient's symptoms. The cystic mass in the right lower pelvic cavity was also excised and confirmed as a blind megaureter.

• Journal of Veterinary Clinics
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• v.30 no.2
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• pp.111-114
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• 2013

A 4-year-old spayed female Miniature Pinscher was presented with a 3.5-year history of elevated liver enzymes level. Continuous elevation of liver enzymes was found on repeated blood examinations and the dog was referred for further evaluation. The abdominal ultrasonography revealed that the gallbladder could not be visualized in any plane. The absence of gallbladder was suspected on ultrasonography. Computed tomography (CT) confirmed gallbladder agenesis (GBA). This is the first reported case of diagnosis of GBA in Miniature Pinscher by using CT.

• Journal of Veterinary Clinics
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• v.41 no.1
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• pp.43-48
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• 2024

A two-year-old, intact female Golden Retriever had previously been diagnosed with a portosystemic shunt (PSS) during an ultrasonographic examination at a local animal hospital. The serum biochemistry revealed elevated liver enzymes and bile acid levels. The abdominal radiographic examination revealed mild serosal detail loss and microhepatica, while abdominal ultrasonography revealed mild ascites and high-velocity flow to the caudal vena cava (CVC) suspected as a PSS. The gallbladder was not observed within the hepatic parenchyma during ultrasonography. Computed tomography (CT) revealed an absent gallbladder and dilation of the common bile duct (CBD). Dilations of the gastroduodenal, splenic, colic and renal veins were also observed. A dilated left phrenico-abdominal vein that entered the CVC was previously misinterpreted as a PSS on the ultrasound examination. Based on the imaging examinations, the dog was diagnosed with congenital gallbladder agenesis associated CBD dilation.

• Journal of the korean academy of Pediatric Dentistry
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• v.51 no.1
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• pp.66-79
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• 2024

This study aimed to assess the prevalence and distribution pattern of dental anomalies in the permanent teeth of patients with non-syndromic cleft lip with or without cleft palate. Additionally, it aimed to compare differences in dental anomalies between cleft and non-cleft areas, considering gender and cleft phenotype. Panoramic radiographs of 164 patients diagnosed with non-syndromic orofacial clefts were retrospectively analyzed by a single examiner to confirm dental anomalies. The dental anomalies investigated included tooth agenesis, supernumerary teeth, microdontia, rotation, ectopic eruption, and enamel hypoplasia. Cleft phenotypes were categorized into 7 types based on medical and dental records. A significantly higher prevalence of supernumerary teeth was observed in males than females within non-cleft areas (p = 0.017), with no significant differences in other dental anomalies. In non-cleft area, patients with cleft palate exhibited a high prevalence of tooth agenesis (p < 0.0001) and microdontia (p = 0.012) compared to other cleft phenotypes. Maxillary incisor rotation was closely associated with adjacent tooth agenesis in unilateral cleft lip and palate cases (p = 0.034). This study suggests that the additional subphenotype based on dental anomalies in patients with orofacial cleft may serve as applicable clinical markers.

• The Journal of Advanced Prosthodontics
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• v.8 no.3
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• pp.241-250
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• 2016

Oligodontia is defined as a congenital tooth agenesis with the absence of six or more permanent teeth. This clinical report describes a patient with non-syndromic partial oligodontia, with retained deciduous teeth and the absence of 16 permanent teeth. Anterior esthetic problems were caused by interarch tooth size discrepancy, interdental space, aberrant tooth dimensions, and the absence of centric contacts of the anterior teeth. Prosthetic restoration after orthodontic and implant treatment was performed with a multi-disciplinary team approach. Favorable functional and esthetic results were obtained using a definitive prosthesis.

• Childhood Kidney Diseases
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• v.22 no.1
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• pp.12-16
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• 2018

Herlyn-Werner-Wunderlich (HWW) syndrome is a rare congenital malformation syndrome that is characterized by a triad of uterine didelphys, blind hemivagina, and ipsilateral renal agenesis. There is a wide variety of phenotypic presentation which is recognized as a spectrum of disease rather than a separate entity. The exact incidence and pathogenesis of HWW syndrome are yet to be investigated. While this disease typically involves adolescent girls who present with abdominal pain or a pelvic mass that is secondary to hematocolpos, nowadays, a majority of potential patients with HWW are being prenatally screened for renal anomalies. Therefore, it is recommended to search for uterovaginal anomalies whenever a multicystic dysplastic kidney or the absence of a kidney is noted in a newborn female, and the role of pediatric nephrologists has become ever more important for early recognition of the disease.