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Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management

Uploader: Taujinn 5 month ago  
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RLD with a short forearm and a pollicized index finger as a thumb. Several organs and systems may be affected, but none of other signs or symptoms can be considered pathognomonic. Individuals with RSTS can be easily diagnosed early in life with the typical stigmata. Additional features of the disorder can include eye abnormalities, heart and kidney defects, dental problems, and obesity. Diagnostic approaches Individuals with suspected RSTS should be evaluated by pediatric geneticists knowledgeable in dysmorphology. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, short stature, and shortening of all phalanges and metacarpals.

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