*Abnormalities, Multiple/radiography ; Basilar Artery/*abnormalities ; Basilar Artery/radiography ; Carotid Artery, Internal/radiography ; Intracranial Aneurysm/*complications ; Intracranial Aneurysm/radiography ; Vertebral Artery/radiography

Abnormalities, Multiple ; diagnostic imaging ; Adult ; Female ; Humans ; Kidney Calculi ; diagnostic imaging ; Radiography ; Ureter ; abnormalities ; diagnostic imaging

Lung agensis is a rare developmental anomaly. It can range from total bronchial and parechymal agensis to mild pulmonary parenchymal hypoplasia of one or both lungs. A case of lobar agenesis of the left upper lung in a 15-year-old boy is presented. The patient had mild exertional dyspnea. Pulmonary angiography revealed the absence of the left upper pulmonary artery and vein. Bronchography showed no branching of bronchus to the left upper lobe. Intravenous pyelography revealed incomplete duplication of the right urinary tract.
Abnormalities, Multiple/*radiography ; Adolescent ; Bronchography ; Cardiac Catheterization ; Dyspnea/etiology ; Heart Murmurs/etiology ; Humans ; Lung/*abnormalities ; Male ; Pulmonary Artery/*abnormalities/radiography ; Pulmonary Veins/*abnormalities ; Tomography, X-Ray Computed ; Urinary Tract/*abnormalities ; Urography

Abnormalities, Multiple ; diagnostic imaging ; Female ; Humans ; Infant ; Lumbar Vertebrae ; abnormalities ; Neural Tube Defects ; diagnostic imaging ; Radiography ; Sacrum ; abnormalities ; Scoliosis ; diagnostic imaging

Abnormalities, Multiple ; diagnostic imaging ; Basilar Artery ; abnormalities ; diagnostic imaging ; Carotid Artery, Internal ; diagnostic imaging ; Humans ; Intracranial Aneurysm ; complications ; diagnostic imaging ; Male ; Middle Aged ; Radiography ; Vertebral Artery ; diagnostic imaging

The clinical features of ring chromosome 6 include central nervous system anomalies, growth retardation, facial dysmorphism and other congenital anomalies. Ring chromosome 6 occurs rarely and manifests as various phenotypes. We report the case of mosaic ring chromosome 6 by conventional karyotyping in a 7-day-old male infant diagnosed with a large patent ductus arteriosus (PDA) with hypoplasia of aortic valve and aortic arch. These have not been previously reported with ring chromosome 6. He recovered from heart failure symptoms after ligation of the PDA. He showed infantile failure to thrive and delayed milestone in a follow-up evaluation. To the best of our knowledge, this is the first report of a Korean individual with ring chromosome 6 and hemodynamically significant PDA.
Abnormalities, Multiple/*diagnosis/genetics/radiography ; Aorta, Thoracic/radiography ; Aortic Valve/ultrasonography ; Chromosome Disorders/*diagnosis/genetics ; Chromosomes, Human, Pair 6/genetics ; Ductus Arteriosus, Patent/*diagnosis/genetics/radiography ; Humans ; Infant ; Karyotyping ; Male ; Ring Chromosomes ; Tomography, X-Ray Computed

One-year-old male Persian cat presented with multiple fractures and no known traumatic history. Marked decrease of bone radiopacity and thin cortices of all long bones were identified on radiography. Tentative diagnosis was osteogenesis imperfecta, a congenital disorder characterized by fragile bone. To determine bone mineral density (BMD), quantitative computed tomography (QCT) was performed. The QCT results revealed a mean trabecular BMD of vertebral bodies of 149.9 ± 86.5 mg/cm³. After bisphosphonate therapy, BMD of the same site increased significantly (218.5 ± 117.1 mg/cm³, p < 0.05). QCT was a useful diagnostic tool to diagnose osteopenia and quantify response to medical treatment.
Animals ; Bone Density ; Bone Diseases, Metabolic ; Cats* ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Diagnosis ; Fractures, Multiple ; Humans ; Male ; Osteogenesis Imperfecta ; Osteogenesis* ; Radiography

Levocardia (left-sided cardiac apex) with abdominal situs inversus is extremely rare. This is also known as isolated levocardia and is almost always associated with severe forms of congenital heart defects with poor prognosis. We report isolated levocardia in a 13-year-old symptomatic male patient. The purpose of this paper is to outline the imaging features of isolated levocardia and to highlight the role of cardiovascular magnetic resonance imaging (CMR) in the diagnosis and management of such cases. Other forms of cardiac malposition, including dextrocardia, mesocardia and criss-cross heart, with chest radiograph and CMR correlation, are also discussed.
Abnormalities, Multiple ; diagnosis ; Adolescent ; Diagnostic Imaging ; Humans ; Levocardia ; diagnosis ; Magnetic Resonance Imaging, Cine ; Male ; Radiography, Thoracic ; Situs Inversus ; diagnosis ; Tomography, X-Ray Computed

We report an autopsy case of a male fetus with Adams-Oliver syndrome. His mother was a healthy, 31-year-old woman and her family and past histories were unremarkable. Therapeutic termination was done at 28() weeks gestational age due to oligohydramnios detected by antenatal ultrasonography. Chromosomal study revealed normal karyotype. On autopsy, characteristic transverse terminal defect of four extremities was found. Both feet were short and broad. All toes were rudimentary with no nails and fingers were irregularly short. On infantogram, all toe-bones were stubby and rudimentary. The middle and terminal phalanges of 2nd, 3rd +ACY- 5th fingers and the terminal phalange of 4th finger on the right hand were absent. The middle and terminal phalanges of 2nd +ACY- 5th fingers and terminal phalange of 3rd finger were defected on the left hand. His abnormalities were consistent with features of Adams-Oliver syndrome, which has not been reported in Korea.
Abnormalities, Multiple/pathology+ACo- ; Abnormalities, Multiple/embryology ; Abortion, Habitual ; Abortion, Therapeutic ; Adult ; Autopsy ; Case Report ; Female ; Fetal Diseases/pathology+ACo- ; Foot Deformities, Congenital/radiography ; Foot Deformities, Congenital/pathology+ACo- ; Foot Deformities, Congenital/embryology ; Genes, Dominant ; Hand Deformities, Congenital/radiography ; Hand Deformities, Congenital/pathology+ACo- ; Hand Deformities, Congenital/embryology ; Human ; Male ; Oligohydramnios ; Pregnancy ; Scalp/embryology ; Scalp/abnormalities+ACo- ; Skin Abnormalities/pathology+ACo- ; Skin Abnormalities/embryology ; Syndrome

We report an autopsy case of a male fetus with Adams-Oliver syndrome. His mother was a healthy, 31-year-old woman and her family and past histories were unremarkable. Therapeutic termination was done at 28() weeks gestational age due to oligohydramnios detected by antenatal ultrasonography. Chromosomal study revealed normal karyotype. On autopsy, characteristic transverse terminal defect of four extremities was found. Both feet were short and broad. All toes were rudimentary with no nails and fingers were irregularly short. On infantogram, all toe-bones were stubby and rudimentary. The middle and terminal phalanges of 2nd, 3rd +ACY- 5th fingers and the terminal phalange of 4th finger on the right hand were absent. The middle and terminal phalanges of 2nd +ACY- 5th fingers and terminal phalange of 3rd finger were defected on the left hand. His abnormalities were consistent with features of Adams-Oliver syndrome, which has not been reported in Korea.
Abnormalities, Multiple/pathology+ACo- ; Abnormalities, Multiple/embryology ; Abortion, Habitual ; Abortion, Therapeutic ; Adult ; Autopsy ; Case Report ; Female ; Fetal Diseases/pathology+ACo- ; Foot Deformities, Congenital/radiography ; Foot Deformities, Congenital/pathology+ACo- ; Foot Deformities, Congenital/embryology ; Genes, Dominant ; Hand Deformities, Congenital/radiography ; Hand Deformities, Congenital/pathology+ACo- ; Hand Deformities, Congenital/embryology ; Human ; Male ; Oligohydramnios ; Pregnancy ; Scalp/embryology ; Scalp/abnormalities+ACo- ; Skin Abnormalities/pathology+ACo- ; Skin Abnormalities/embryology ; Syndrome