Retinoblastoma

A rare eye tumor disease representing the most common intraocular malignancy in children. It is a life threatening neoplasia but is potentially curable and it can be hereditary or non hereditary, unilateral or bilateral.

Low-set ears

Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.


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PMID (PMCID)
20814946
 MIXED_SAMPLE Adult
Tissue-limited mosaicism for monosomy 13.
Golabi M, James AW, Good WV, Cotter PD.
Am J Med Genet A. 2010;152A(10):2634-9.
Comparison of the previously reported patients with the patient reported here defines a common phenotype for tissue-limited mosaicism for monosomy 13 consisting of prenatal-onset growth deficiency; microcephaly; facial abnormalities including prominent nasal bridge, hypertelorism, ptosis, epicanthal folds, microphthalmia, coloboma, retinoblastoma, prominent maxilla, micrognathia, and low-set ears; limb abnormalities including small to absent thumbs, clinodactyly of fifth finger, fused metacarpal bones 4 and 5, talipes equinovarus, and short first toe; cardiac defect; renal anomalies; and genitalia abnormalities including hypospadias and cryptorchidism.