Skip to main content

Table 2 Summary of similar cases reported in the literature

From: Identification of a 6-month-old baby with a combination of WAGR and Potocki-Shaffer contiguous deletion syndromes by SNP array testing

Deletion and the breakpointsAge at last clinical assessmentPhenotypesReferences
Case 1del(11)(p11.2p14.2)26 yearsBilateral aniridia, Lacunae in the left parietal, Large fontanelle, Bilateral buphthalmos, Glaucoma, Lens opacities, Hypospadias, Undescended testes, Small penis at 2 months; Wilms’tumour at 2 years; Glomerulonephritis, Multiple exostoses, Hypertension, Mental retardation at 4 years and older.[7]
Case 2del(11)(p11.2p14.1)25 yearsAniridia, Ptosis, Low set ears, Flat malar areas, Micrognathia at 3 months; Left kidney tumor at 15 months; Multiple exostoses at 6 years; Cataract at 7 years; Mammary hypertrophy, Severe obesity at 10 years; Horizontal nystagmus, Bilateral aphakia, Complete bilateral aniridia with neovascularization, Scars of corneal ulcer, Corneal opacities, Ocular hypertension, Hypertension, Proteinuria, Mild to moderate mental retardation, Disturbances, Obsessive, Hyperphagia, Temper tantrums, Intolerance to frustration, Exostoses, Small foramina.[8]
Case 3 (atypia no PAX6 deletion)del(11)p13-p1215 yearsCataract, Astigmatism and myopia in the right eye, Facial deformities, Bilateral ptosis, Nasal bridge depression, Ear fold, Maxillary malocclusion, Cryptorchidism, Hypospadias, Postoperative testicular atrophy, Mild to moderate mental retardation, Epilepsy starts at the age of 9.[9]