Thumb and facial abnormalities, microcephaly and cardiac defects

G. Cocchi; M. Capelli; L. Garavelli; S. Gualdi; E. Mazzoni

Thumb and facial abnormalities, microcephaly and cardiac defects

G. Cocchi, M. Capelli, L. Garavelli, S. Gualdi, E. Mazzoni

Arcispedale Santa Maria Nuova

Research output: Contribution to journal › Article › peer-review

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
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

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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.",

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AU - Cocchi, G.

AU - Capelli, M.

AU - Garavelli, L.

AU - Gualdi, S.

AU - Mazzoni, E.

PY - 2003/8

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AB - 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.

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KW - Cardiac defects

KW - Facial abnormalities

KW - Mental retardation

KW - Microdeletion

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