Biomaterial Database

Williams syndrome. Report of a case. 1992

J Cobo, and J Argüelles, and M Vijande, and G Ibaseta

University of Oviedo, Spain.

Williams syndrome is a rare anomaly consisting of idiopathic hypercalcemia that is normally accompanied by aortic stenosis, moderate mental retardation, and a characteristic elfin face. Because persons with this syndrome have severe dental abnormalities, it is in the dental or orthodontic clinic that the disease can eventually be detected. A unique case of this type is reported.

UI	MeSH Term	Description	Entries
D008607	Intellectual Disability	Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)	Disability, Intellectual,Idiocy,Mental Retardation,Retardation, Mental,Deficiency, Mental,Intellectual Development Disorder,Mental Deficiency,Mental Retardation, Psychosocial,Deficiencies, Mental,Development Disorder, Intellectual,Development Disorders, Intellectual,Disabilities, Intellectual,Disorder, Intellectual Development,Disorders, Intellectual Development,Intellectual Development Disorders,Intellectual Disabilities,Mental Deficiencies,Mental Retardations, Psychosocial,Psychosocial Mental Retardation,Psychosocial Mental Retardations,Retardation, Psychosocial Mental,Retardations, Psychosocial Mental
D010826	Physiognomy	An assessment of a person's personality based on their facial and other external features.	Physiognomies
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D006934	Hypercalcemia	Abnormally high level of calcium in the blood.	Milk-Alkali Syndrome,Hypercalcemias,Milk Alkali Syndrome,Syndrome, Milk-Alkali
D001024	Aortic Valve Stenosis	A pathological constriction that can occur above (supravalvular stenosis), below (subvalvular stenosis), or at the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA.	Aortic Stenosis,Aortic Valve Stenoses,Stenoses, Aortic,Stenoses, Aortic Valve,Stenosis, Aortic,Stenosis, Aortic Valve,Valve Stenoses, Aortic,Valve Stenosis, Aortic
D012600	Scoliosis	An appreciable lateral deviation in the normally straight vertical line of the spine. (Dorland, 27th ed)	Scolioses
D013577	Syndrome	A characteristic symptom complex.	Symptom Cluster,Cluster, Symptom,Clusters, Symptom,Symptom Clusters,Syndromes
D014071	Tooth Abnormalities	Congenital absence of or defects in structures of the teeth.	Odontome,Abnormalities, Teeth,Abnormalities, Tooth,Teeth Abnormalities,Abnormality, Teeth,Abnormality, Tooth,Odontomes,Teeth Abnormality,Tooth Abnormality