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Axenfeld–Rieger ocular anomaly and retinoblastoma caused by constitutional chromosome 13q deletion
Author(s) -
Roche Ana,
Mora Jaume,
Perez Maria del Mar,
Gean Esther,
Perez Belen,
O'Callaghan Mar,
Catala Jaume,
De Torres Carmen,
Cruz Ofelia,
Prat Joan,
Parareda Andreu
Publication year - 2010
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.22354
Subject(s) - retinoblastoma , medicine , cryotherapy , blood cancer , chemotherapy , stage (stratigraphy) , ophthalmology , cancer , surgery , genetics , biology , gene , paleontology
Axenfeld–Rieger (AR) ocular anomaly might be due to deletions of different chromosomes. No association between AR, mental retardation, and retinoblastoma has been described. We report a 2‐month‐old female with general development delay and dysmorphic features. AR anomaly was detected, and a retinoblastoma (RB) was diagnosed in a very early stage. De novo 13q deletion was identified. Systemic chemotherapy, focal cryotherapy, transpupillary thermotherapy, brachytherapy, and intra‐arterial chemotherapy were needed to control the RB. This is the first report of an association of AR, 13q deletion, and retinoblastoma, to be disclosed in patients born with such ocular and dysmorphic features. Pediatr Blood Cancer 2010;54:480–482. © 2009 Wiley‐Liss, Inc.