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Rubinstein Taybi syndrome: Broad thumbs - Hallux syndrome
Author(s) -
Mahesh Kamate,
NS Mahantshetti,
Anshul Mehra
Publication year - 2012
Publication title -
journal of the scientific society
Language(s) - English
Resource type - Journals
eISSN - 2278-7127
pISSN - 0974-5009
DOI - 10.4103/0974-5009.96474
Subject(s) - rubinstein–taybi syndrome , medicine , genetic syndromes , genetic counseling , pediatrics , physical medicine and rehabilitation , dermatology , genetics , biology
The Rubinstein Taybi syndrome is a rare genetic disorder that is characterized by varying degrees of intellectual disabilities, distinct facial features, broad thumbs and first toe, and delay in cognitive and motor skill development. This is often detected in newborns because of the physical features that are apparent at birth. Correct diagnosis helps in the appropriate genetic counseling of parents. Here we report a case wherein the characteristic physical features led to the diagnosis of the Rubinstein Taybi Syndrome

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