title: Axenfeld-Rieger ocular anomaly and retinoblastoma caused by constitutional chromosome 13q deletion.
abstract: 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.
authors.affiliation: Department of Child Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.
authors.forename: Ana
authors.initials: A
authors.lastname: Roche
authors.forename: Jaume
authors.initials: J
authors.lastname: Mora
authors.forename: Maria Del Mar
authors.initials: Mdel M
authors.lastname: Perez
authors.forename: Esther
authors.initials: E
authors.lastname: Gean
authors.forename: Belen
authors.initials: B
authors.lastname: Perez
authors.forename: Mar
authors.initials: M
authors.lastname: O'Callaghan
authors.forename: Jaume
authors.initials: J
authors.lastname: Catala
authors.forename: Carmen
authors.initials: C
authors.lastname: De Torres
authors.forename: Ofelia
authors.initials: O
authors.lastname: Cruz
authors.forename: Joan
authors.initials: J
authors.lastname: Prat
authors.forename: Andreu
authors.initials: A
authors.lastname: Parareda
mesh_terms: D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13; D005124:Eye Abnormalities / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D012175:Retinoblastoma / Q000235:genetics*; D013577:Syndrome