ABSTRACT
@#<p><strong>OBJECTIVES:</strong> Diagnosis of Turner syndrome in Malaysia is often late. This may be due to a lack of awareness of the wide clinical variability in this condition. In our study, we aim to examine the clinical features of all our Turner patients during the study period and at presentation.</p><p><strong>METHODOLOGY:</strong> This was a cross-sectional study. Thirty-four (34) Turner patients were examined for Turner-specific clinical features. The karyotype, clinical features at presentation, age at diagnosis and physiologic features were retrieved from their medical records.</p><p><strong>RESULTS:</strong> Patients with 45,X presented at a median age of 1 month old with predominantly lymphoedema and webbed neck. Patients with chromosome mosaicism or structural X abnormalities presented at a median age of 11 years old with a broader clinical spectrum, short stature being the most common presenting clinical feature. Cubitus valgus deformity, nail dysplasia and short 4th/5th metacarpals or metatarsals were common clinical features occurring in 85.3%-94.1% of all Turner patients. Almost all patients aged ?2 years were short irrespective of karyotype.</p><p><strong>CONCLUSION:</strong> Although short stature is a universal finding in Turner patients, it is usually unrecognised till late. Unlike the 45,X karyotype, non-classic Turner syndrome has clinical features which may be subtle and difficult to discern. Our findings underscore the importance of proper serial anthropometric measurements in children. Awareness for the wide spectrum of presenting features and careful examination for Turner specific clinical features is crucial in all short girls to prevent a delay in diagnosis.</p>
Subject(s)
Humans , Turner Syndrome , KaryotypeABSTRACT
Objective To study the clinical efficacy of bilateral double Z plasties for correction of the webbed neck defects, and to explore its principle and superiority to other reported methods. Methods We designed a small Z plasty over the mastoid with a rhomboidal skin resection of infra-hairline, and another large Z plasty transposition skin flap in superior-acromion. The tight band of fibrous webbing was separately cut and undermined at infra-mastoid and midclavicular line, wherein the middle part of the band retracted medially.Results It involved narrow tunneled anterolateral skin undermining and minimal skin resections from the nape of the neck, and posterior rhomboidal skin excision avoided the unnatural and noticeable lateral scars with normal skin extended in the middle of the webbing.The resultant scar was hidden and mild with no hypertrophic scars. A total of 5 cases were repaired, in which 1 case was male, 4 others were females. Follow-up for 1 to 11 years showed that the appearance and function in the repaired sites by using the bilateral double Z-plasties for repair of webbed neck deformity were very satisfactory. Conclusion We propose the use of this technique for correction of webbed neck deformities with simplified manipulation and cosmetic effect.
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.