Abstract
The Rubinstein-Taybi Syndrome (RTS) is an autosomic dominant disease (MIM 180849), associated with microdeletion 16p13.3 in about 20% of cases (Petrij et al., 2000); it is characterized by facial, skeletal, renal and cerebral abnormalities, cardiac defects, moderate/severe mental retardation, immunodeficiency, feeding difficulties and growth delay (Rubinstein and Taybi, 1963). The differential diagnosis is usually with Floating-Harbor syndrome and Keipert-Danks syndrome.
Original language | English |
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Pages (from-to) | 254-256 |
Number of pages | 3 |
Journal | Italian Journal of Pediatrics |
Volume | 29 |
Issue number | 4 |
Publication status | Published - Aug 2003 |
Keywords
- Broad and flat thumbs and toes
- Cardiac defects
- Facial abnormalities
- Mental retardation
- Microdeletion
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health