• Journal of Veterinary Clinics
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• v.19 no.1
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• pp.110-113
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• 2002

An atrial septal defect (ASD) is a congenital hole in the atrial septum that allows flow between the two atria. Small ASDs are usually well-tolerated defects and do not result in significant clinical abnormalities. In large ASDs or in the presence of other cardiac defects, clinically significancy is increased. Atrial septal defects in 2 Dogs with cardiac and respiratory signs were diagnosed at seoul animal medical center. In ascultation, systolic murmur and the splitting of second heart sound were heard at pulmonary or tricuspid valve region. In radiograph, right-sided cardiomegaly, pulmonary artery dilation, increased pulmonary vasculature makings, and pleural effusion or pulmonary edema signs were observed. In echocardiography, the region, location and size of septal defect was identified. Also, the direction and degree of shunt was measured. These dogs were treated with medicine for cardiac failure. One dog is well-tolerated, the other dog died.

• Journal of Genetic Medicine
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• v.9 no.2
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• pp.89-92
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• 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.