Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.

Craniofrontonasal syndrome (CFNS), an X-linked disorder caused by loss-of-function mutations of EFNB1, exhibits a paradoxical sex reversal in phenotypic severity: females characteristically have frontonasal dysplasia, craniosynostosis and additional minor malformations, but males are usually more mildly affected with hypertelorism as the only feature. X-inactivation is proposed to explain the more severe outcome in heterozygous females, as this leads to functional mosaicism for cells with differing expression of EPHRIN-B1, generating abnormal tissue boundaries-a process that cannot occur in hemizygous males. Apparently challenging this model, males occasionally present with a more severe female-like CFNS phenotype.

Assessing nonacceptance of the facial appearance in adult patients after complete treatment of their rare facial cleft.

Background: Treatment of patients with severe congenital facial disfigurements is aimed at restoring an aesthetic and functional balance. Besides an adequate level of satisfaction, an individual's acceptance of facial appearance is important to achieve because nonacceptance is thought to lead to daily psychological struggles. This study objectified the prevalence of nonacceptance among adult patients treated for their severe facial clefts, evaluated risk factors, and developed a screening tool.

Adults with congenital or acquired facial disfigurement: impact of appearance on social functioning.

This study evaluates the impact of congenital and acquired facial disfigurement on social functioning in adults and whether this differs from adults without facial disfigurement. Moreover, the predictive value of objective and subjective appearance on social functioning is explored. Fifty-nine adults with severe congenital facial disfigurement, 59 adults with traumatically acquired facial deformities in adulthood, and 120 adults without facial disfigurement, completed the Scale for Interpersonal Behaviour, Social Avoidance and Distress Scale, and Visual Analogue Scale for facial appearance satisfaction.

Defense mechanisms in congenital and acquired facial disfigurement: a clinical-empirical study.

It is of clinical interest to investigate the degree to which patients with facial disfigurement use defense styles. Therefore, 59 adults born with rare facial clefts, 59 patients with facial deformities acquired at an adult age, and a reference group of 141 adults without facial disfigurements completed standardized questionnaires. There was a significant difference between the group with and the group without disfigurements on immature defense styles, with the disfigured group using the immature style more frequently.

Long-term results after 40 years experience with treatment of rare facial clefts: Part 1--Oblique and paramedian clefts.

Background: Oblique and paramedian rare facial clefts impose a major reconstructive challenge and long-term assessments of the outcomes remain scarce. This study provides new details regarding surgical techniques and timing, influence of growth, and difficulties of this pathology on the long-term; a guideline for surgical treatment is given.

Methods: Twenty-nine adults with an oblique or paramedian facial cleft and surgically treated in the authors' unit between 1969 and 2009, were included.

Long-term results after 40 years experience with treatment of rare facial clefts: Part 2--Symmetrical median clefts.

Background: Median facial clefts are reconstructive challenges, requiring multiple operations throughout life. Long-term results are often still far from ideal and could be improved. Due to surgical intervention and diminished intrinsic growth potential, surgical results may change from initially good into a progressively disappointing outcome.