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Journal of Korean Cleft Palate-Craniofacial Association 2005;6(2):136-138.
A Case of One Stage Correction of Pterygium Colli and Ptosis with Epicnathal Fold in Pediatric Ullrich-Noonan Syndrome.
Sang Joon Lee, So Young Lim, Goo Hyun Mun, Won Sok Hyon, Sa Ik Bang, Kap Sung Oh
Department of Plastic Surgery, Sungkyunkwan University of Medicine, Samsung Medical Center, Seoul, Korea. sy72.lim@samsung.com
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.
Keywords: Webbed neck; Pterygium colli; Ullrich-Noonan syndrome; Ptosis with epicanthal fold
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