Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1.

Craniofrontonasal syndrome (CFNS) is an X-linked developmental malformation, caused by mutations in the EFNB1 gene, which have only been described since 2004. A genotype-phenotype correlation seems not to be present. As it is of major importance to adequately counsel patients with EFNB1 mutations and their parents, and to improve diagnosis of new patients, more information about the phenotypic features is needed. This study included 23 patients (2 male, 21 female) with confirmed EFNB1 mutations. All patients underwent a thorough physical examination and photographs were taken. If available, radiological images were also consulted. Hypertelorism, longitudinal ridging and/or splitting of nails, a (mild) webbed neck and a clinodactyly of one or more toes were the only consistent features observed in all patients. Frequently observed phenotypic features were bifid tip of the nose (91%), columellar indentation (91%) and low implantation of breasts (90%). In comparison with anthropometric data of facial proportions, patients with CFNS had a significantly different face in multiple respects. An overview of all phenotypic features is shown. Patients with EFNB1 mutations have a clear phenotype. This study will facilitate genetic counseling of parents and patients, and contribute to the diagnostic and screening process of patients with suspected CFNS.

Smoking in relation to age in aesthetic facial surgery.

BACKGROUND: Smoking is a major cause of premature facial aging. Skin aging in general, often accompanied by wrinkling and furrowing, plays a significant role in the decision to undergo aesthetic surgery. Smoking may therefore be related to the demand for cosmetic surgery. This study aimed to compare smoking habits with respect to a standard cosmetic procedure (blepharoplasty) in the general population and to evaluate whether the age at surgery differs between smokers and nonsmokers. METHODS: A questionnaire was sent to 517 patients with valid reports describing dermatochalasis of the upper eyelid who subsequently underwent an upper-eyelid correction in 2004. Smoking habits, socioeconomic status, and medical history were evaluated. The patients were classified as smokers, ex-smokers with at least 1 year of smoking cessation, and never-smokers. RESULTS: Of the 353 questionnaires (68.3 %) returned, 345 were eligible for statistical analysis. The smoking habits did not differ between the blepharoplasty group and the general population. However, the smokers underwent surgery an average of 3.7 years earlier than the ex-smokers (p=0.0007) and 3.5 years earlier than the never-smokers (p=0.006). No significant difference was observed between the ex-smokers and the never-smokers. CONCLUSIONS: This is the first study to describe an association between smoking habits and an earlier need for upper-eyelid correction among ex- and never-smokers. The mechanism of skin restoration could result in a regenerative mechanism among ex-smokers, but further research is needed to support this hypothesis. LEVEL OF EVIDENCE III: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors at www.springer.com/00266.