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Eur J Med Genet. 2007 Mar-Apr;50(2):120-7. Epub 2006 Oct 28.

Clinical presentation of a variant of Axenfeld-Rieger syndrome associated with subtelomeric 6p deletion.

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  • 1Genetic Service, Fundacion Jimenez Diaz, Madrid, Spain.


We report a 22-year-old female with a variant of the Axenfeld-Rieger Syndrome (ARS) and discuss its relation with the subtelomeric 6p deletion. An ARS variant has been described in two familial cases of Axenfeld-Rieger Anomaly (ARA) featuring specific extra ocular manifestations-hypertelorism, midface hypoplasia, mild sensorial deafness, hydrocephaly, psychomotor delay and flattened femoral epiphyses. We proposed that this set of characteristics represents a separate syndrome within the ARS. On the other hand, there have been reported four cases with cryptic de novo pure 6pter microdeletions detected by specific subtelomeric probes in patients with ARS characteristics. We describe a 6pter deletion detected by SNP genotyping and confirmed by FISH and MLPA involving the FOXC1 gene in a patient with ocular and systemic findings that fit perfectly with the variant mentioned above. We conclude that the ARS variant belongs to the ARS phenotypic spectrum, which includes flattened femoral epiphyses as a feature.

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