Table 2 Summary of similar cases reported in the literature

Case 1

del(11)(p11.2p14.2)

26 years

Bilateral 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 2

del(11)(p11.2p14.1)

25 years

Aniridia, 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-p12

15 years

Cataract, 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]