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Thyroid hypoplasia of the left lobe in two girls affected by Williams syndrome. 2003

Stefano Stagi, and Giuseppe Bindi, and Anna Silvia Neri, and Maria Luisa Giovannucci-Uzielli, and Elisabetta Lapi, and Fiorella Galluzzi, and Roberto Salti
Paediatric Endocrinology Unit, Department of Paediatrics, University of Florence, A. Meyer Children's Hospital, Florence, Italy.

Williams syndrome is a well-recognized disorder, having an incidence of 1 in 20,000 live births. However, thyroid function in these patients is rarely studied. This paper reports thyroid hypoplasia of the left lobe in two girls affected by Williams syndrome, suggesting that it may be a feature of this syndrome.

UI MeSH Term Description Entries
D011859 Radiography Examination of any part of the body for diagnostic purposes by means of X-RAYS or GAMMA RAYS, recording the image on a sensitized surface (such as photographic film). Radiology, Diagnostic X-Ray,Roentgenography,X-Ray, Diagnostic,Diagnostic X-Ray,Diagnostic X-Ray Radiology,X-Ray Radiology, Diagnostic,Diagnostic X Ray,Diagnostic X Ray Radiology,Diagnostic X-Rays,Radiology, Diagnostic X Ray,X Ray Radiology, Diagnostic,X Ray, Diagnostic,X-Rays, Diagnostic
D011877 Radionuclide Imaging The production of an image obtained by cameras that detect the radioactive emissions of an injected radionuclide as it has distributed differentially throughout tissues in the body. The image obtained from a moving detector is called a scan, while the image obtained from a stationary camera device is called a scintiphotograph. Gamma Camera Imaging,Radioisotope Scanning,Scanning, Radioisotope,Scintigraphy,Scintiphotography,Imaging, Gamma Camera,Imaging, Radionuclide
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D013959 Thyroid Diseases Pathological processes involving the THYROID GLAND. Disease, Thyroid,Diseases, Thyroid,Thyroid Disease
D013961 Thyroid Gland A highly vascularized endocrine gland consisting of two lobes joined by a thin band of tissue with one lobe on each side of the TRACHEA. It secretes THYROID HORMONES from the follicular cells and CALCITONIN from the parafollicular cells thereby regulating METABOLISM and CALCIUM level in blood, respectively. Thyroid,Gland, Thyroid,Glands, Thyroid,Thyroid Glands,Thyroids
D014463 Ultrasonography The visualization of deep structures of the body by recording the reflections or echoes of ultrasonic pulses directed into the tissues. Use of ultrasound for imaging or diagnostic purposes employs frequencies ranging from 1.6 to 10 megahertz. Echography,Echotomography,Echotomography, Computer,Sonography, Medical,Tomography, Ultrasonic,Ultrasonic Diagnosis,Ultrasonic Imaging,Ultrasonographic Imaging,Computer Echotomography,Diagnosis, Ultrasonic,Diagnostic Ultrasound,Ultrasonic Tomography,Ultrasound Imaging,Diagnoses, Ultrasonic,Diagnostic Ultrasounds,Imaging, Ultrasonic,Imaging, Ultrasonographic,Imaging, Ultrasound,Imagings, Ultrasonographic,Imagings, Ultrasound,Medical Sonography,Ultrasonic Diagnoses,Ultrasonographic Imagings,Ultrasound, Diagnostic,Ultrasounds, Diagnostic
D018980 Williams Syndrome A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy. Contiguous Gene Syndrome, Williams,Beuren Syndrome,Chromosome 7q11.23 Deletion Syndrome,Hypercalcemia-Supravalvar Aortic Stenosis,Supravalvar Aortic Stenosis Syndrome,Williams Contiguous Gene Syndrome,Williams-Beuren Syndrome,Aortic Stenoses, Hypercalcemia-Supravalvar,Aortic Stenosis, Hypercalcemia-Supravalvar,Hypercalcemia Supravalvar Aortic Stenosis,Hypercalcemia-Supravalvar Aortic Stenoses,Stenoses, Hypercalcemia-Supravalvar Aortic,Stenosis, Hypercalcemia-Supravalvar Aortic,Syndrome, Beuren,Syndrome, Williams,Syndrome, Williams-Beuren,Williams Beuren Syndrome

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