期刊
CLINICAL DYSMORPHOLOGY
卷 14, 期 4, 页码 189-190出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/00019605-200510000-00004
关键词
Smith-Magenis syndrome; polyclactyly
Smith-Magenis syndrome is a microdeletion syndrome involving chromosome 17p11.2. The characteristic features include mental retardation, dysmorphic facial features, minor skeletal anomalies including brachydactyly and behavioural abnormalities, such as disturbed sleep pattern, restlessness and self-destructive behaviour. We present a patient with this syndrome and with six digits on each hand. Polydactyly has not yet been described in Smith-Magenis syndrome as far as we know.
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