J Korean Cleft Palate-Craniofac Assoc.  2005 Oct;6(2):136-138.

A Case of One Stage Correction of Pterygium Colli and Ptosis with Epicnathal Fold in Pediatric Ullrich-Noonan Syndrome

• Lee SJ
• Lim SY
• Mun GH
• Hyon WS
• Bang SI
• Oh KS

Abstract

Ullrich-Noonan syndrome was first recognized as a unique entity in 1963 when Noonan and Ehmke described a series of patients with unusual faces and multiple malformations. These patients proved to have phenotypes of Turner syndrome with normal karyotyes, which is important feature that distinguishes Noonan from Turner syndrome. Typical features are triangular shaped face, hypertelorism, down slanting eyes, ptosis, strabismus, amblyopia, refractive errors, low set ears with thickened helices, high nasal bridge and webbed neck. A 5-year old female was admitted to our center for a surgical intervention of the known webbed neck deformity, ipsilateral upper eyelid ptosis and bilateral epicanthal fold. She had normal karyotye(46, XX) without further abnormality on physical examination. We corrected the webbed neck deformity, ptosis and epicanthal fold simultaneously with satisfactory result.

Keyword

Webbed neck; Pterygium colli; Ullrich-Noonan syndrome; Ptosis with epicanthal fold

MeSH Terms

Amblyopia
Blepharoptosis
Child, Preschool
Congenital Abnormalities
Ear
Female
Humans
Hypertelorism
Neck
Noonan Syndrome*
Phenotype
Physical Examination
Pterygium*
Refractive Errors
Strabismus
Turner Syndrome