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

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

OBJECTIVETo assess the accuracy of echocardiography in diagnosis of total anomalous pulmonary venous connection (TAPVC).

METHODSA combination of suprasternal, parasternal, subcostal and apical views were employed to diagnose TAPVC and to trace the course of the anomalous pulmonary venous connection, the direction of the inter-atrial shunt, enlargement of right atrium (RA) and right ventricle (RV), superior and inferior vena cava. All pediatric patients underwent surgical repair. The results of echocardiography were compared with surgical findings.

RESULTA total of 28 consecutive pediatric patients with suspected TAPVC were included in this study. The TAPVC diagnosis was confirmed in 26 cases after surgery, partial anomalous pulmonary venous connection (PAPVC) in one case, and Cor Triatriatum and possible TAPVC in another. The diagnostic accuracy of TAPVC by echocardiography in the study was 92.86%. There were 17 supracardiac TAPVC, 11 intracardiac TAPVC. In all patients, enlargement of the RA and RV, inter-atrial right-to-left shunt via atrial septal defects were documented in parasternal and subcostal views. Common pulmonary vein or four pulmonary vein direct to RA or via coronary sinus to RA were the draining sites of intracardiac TAPVC. The enlargement of left innominate vein-right superior vena cava draining to RA was seen in supracardiac TAPVC.

CONCLUSIONA combination of suprasternal and subcostal multi-views in echocardiography can increase the diagnostic accuracy of TAPVC in pediatric patients.

Abnormalities, Multiple ; diagnostic imaging ; Child ; Child, Preschool ; Echocardiography, Doppler, Color ; Female ; Heart Septal Defects, Atrial ; diagnostic imaging ; Humans ; Infant ; Infant, Newborn ; Male ; Pulmonary Veins ; abnormalities ; diagnostic imaging

OBJECTIVE: To analyze the phenotype and genetic variant of a fetus with dysplasia of cerebellar vermis. METHODS: Gestational status and family history of the gravida was taken in combination with the imaging results of the fetus. Following elected abortion, fetal tissue and peripheral blood samples of the couple were collected for the extraction of genome DNA. Whole exome sequencing was carried out to screen potential variant associated with the phenotype of the proband. Specific PCR primers were designed to verify the results by Sanger sequencing. RESULTS: Prenatal ultrasound revealed that the fetal vermis cerebellum was poorly developed, which was similar to the previous pregnancy. Whole exome sequencing revealed that the fetus has carried compound heterozygous variants of the CPLANE1 gene, namely c.7978C>T and c.7169delT, which were respectively inherited from the husband and wife. CONCLUSION The c.7978C>T and c.7169delT compound heterozygous variants of the CPLANE1 gene probably underlay the dysplasia of cerebellar vermis in the fetus, which has provided a basis for genetic counseling and prenatal diagnosis.
Abnormalities, Multiple/genetics* ; Cerebellum/diagnostic imaging* ; Eye Abnormalities/genetics* ; Female ; Fetus ; Humans ; Kidney Diseases, Cystic ; Mutation ; Phenotype ; Pregnancy ; Retina/abnormalities*

Abnormalities, Multiple ; Choanal Atresia ; diagnostic imaging ; Female ; Humans ; Infant, Newborn ; Intubation, Gastrointestinal ; Tomography, X-Ray Computed

Abnormalities, Multiple/diagnostic imaging* ; Adolescent ; Adult ; Cysts/diagnostic imaging* ; Dysuria/etiology* ; Hemospermia/etiology* ; Humans ; Magnetic Resonance Imaging ; Male ; Male Urogenital Diseases/diagnostic imaging* ; Seminal Vesicles/diagnostic imaging* ; Solitary Kidney/diagnostic imaging* ; Syndrome ; Tomography, X-Ray Computed ; Young Adult

Abnormalities, Multiple ; diagnosis ; diagnostic imaging ; Aorta, Thoracic ; abnormalities ; diagnostic imaging ; Aortic Aneurysm, Thoracic ; congenital ; diagnosis ; diagnostic imaging ; Aortic Diseases ; congenital ; diagnosis ; diagnostic imaging ; Child ; Diagnosis, Differential ; Humans ; Male ; Radiography ; Rare Diseases ; X-Rays

Abnormalities, Multiple ; Bronchi ; abnormalities ; Bronchography ; Constriction, Pathologic ; diagnostic imaging ; Diagnosis, Differential ; Humans ; Infant ; Male ; Rare Diseases ; Tomography, X-Ray Computed ; Trachea ; abnormalities ; diagnostic imaging ; Tracheal Stenosis ; congenital ; diagnostic imaging

Abnormalities, Multiple ; diagnostic imaging ; genetics ; Cataract ; congenital ; diagnostic imaging ; genetics ; Chromosome Deletion ; Chromosomes, Human, Pair 1 ; genetics ; Cornea ; abnormalities ; diagnostic imaging ; Head ; diagnostic imaging ; Humans ; Hypogonadism ; diagnostic imaging ; genetics ; Infant ; Intellectual Disability ; diagnostic imaging ; genetics ; Male ; Microcephaly ; diagnostic imaging ; genetics ; Optic Atrophy ; diagnostic imaging ; genetics ; Phenotype