Duplication 11p

Individuals with duplication of the short arm of chromosome 11 have growth retardation and facial features including frontal bossing, a broad and flat nasal bridge, cleft lip/palate, and macroglossia; additional manifestations include hernia formation, cryptorchidism, hypospadias, and renal and cardiac malformations. Ophthalmic features include hypertelorism, epicanthus, downward slanting of the palpebral fissures, strabismus, blepharoptosis, conjunctival telangiectasia, Brushfield spots of the iris, nystagmus, and a retinal degeneration with abnormal rod responses on electroretinography.87,170,340,358,377

Was this article helpful?

0 0
How To Deal With Rosacea and Eczema

How To Deal With Rosacea and Eczema

Rosacea and Eczema are two skin conditions that are fairly commonly found throughout the world. Each of them is characterized by different features, and can be both discomfiting as well as result in undesirable appearance features. In a nutshell, theyre problems that many would want to deal with.

Get My Free Ebook


Post a comment