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Title: Williams syndrome starts making sense

Journal Article · · American Journal of Human Genetics
OSTI ID:476745

1996 may be marked as a transitional year in the study of Williams syndrome (WS), when the causes of this complex condition and a practical way to investigate began to come into focus. WS presents a remarkable collection of symptoms that affect blood vessels, growth, intelligence, and behavior. WS commonly leads to infantile hypercalcemia, retardation of growth, prematurely wrinkled skin, supraventricular aortic stenosis (SVAS), and sensitivity to loud noise. Children with this condition are often mentally retarded, with distinctive {open_quotes}elfin{close_quotes} facial features, a hoarse voice, and an {open_quotes}engaging{close_quotes} personality. Their cognitive deficits may be minimal or profound but typically involve a specific pattern of strengths and weaknesses, with better-than-average face recognition but little ability to recognize how parts of patterns that they see fit into a whole. 36 refs.

OSTI ID:
476745
Journal Information:
American Journal of Human Genetics, Vol. 59, Issue 4; Other Information: PBD: Oct 1996
Country of Publication:
United States
Language:
English