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Facial Anomalies (facial + anomaly)

Distribution by Scientific Domains

Life Sciences	60%

Selected Abstracts

Genotype differences in cognitive functioning in Noonan syndrome

GENES, BRAIN AND BEHAVIOR, Issue 3 2009
E. I. Pierpont
Noonan syndrome (NS) is an autosomal-dominant genetic disorder associated with highly variable features, including heart disease, short stature, minor facial anomalies and learning disabilities. Recent gene discoveries have laid the groundwork for exploring whether variability in the NS phenotype is related to differences at the genetic level. In this study, we examine the influence of both genotype and nongenotypic factors on cognitive functioning. Data are presented from 65 individuals with NS (ages 4,18) who were evaluated using standardized measures of intellectual functioning. The cohort included 33 individuals with PTPN11 mutations, 6 individuals with SOS1 mutations, 1 individual with a BRAF mutation and 25 participants with negative, incomplete or no genetic testing. Results indicate that genotype differences may account for some of the variation in cognitive ability in NS. Whereas cognitive impairments were common among individuals with PTPN11 mutations and those with unknown mutations, all of the individuals with SOS1 mutations exhibited verbal and nonverbal cognitive skills in the average range or higher. Participants with N308D and N308S mutations in PTPN11 also showed no (or mild) cognitive delays. Additional influences such as hearing loss, motor dexterity and parental education levels accounted for significant variability in cognitive outcomes. Severity of cardiac disease was not related to cognitive functioning. Our results suggest that some NS-causing mutations have a more marked impact on cognitive skills than others. [source]

Smith-Lemli-Opitz syndrome: New mutation with a mild phenotype

AMERICAN JOURNAL OF MEDICAL GENETICS, Issue 1 2002
Chitra Prasad
Abstract Smith-Lemli-Opitz syndrome (SLOS) (Online Mendelian Inheritance in Man, OMIMÔ, 2001, http://www.ncbi.nlm.nih.gov/omim/ for SLOS, MIM 270400) is an autosomal recessive disorder of cholesterol biosynthesis caused by mutations of the 3,-hydroxysterol ,7 -reductase gene, DHCR7. We report on a female infant with an exceptionally mild phenotype of SLOS, in whom molecular studies identified a new mutation in DHCR7. The proposita initially presented with feeding difficulties, failure to thrive, hypotonia, mild developmental delay, and oral tactile aversion. She had minor facial anomalies and 2,3 syndactyly of her toes in both feet. The plasma cholesterol was borderline low at 2.88 mmol/L (normal 2.97,4.40 mmol/L). Elevated plasma 7-dehydrocholesterol level of 200.0 ,mol/L confirmed the clinical diagnosis of SLOS. Molecular analysis demonstrated compound heterozygosity for IVS8-1G ,C and Y280C, a new missense mutation in DHCR7. Since the other mutation in this patient is a known null mutation, this newly discovered mutation is presumably associated with significant residual enzyme activity and milder expression of clinical phenotype. © 2002 Wiley-Liss, Inc. [source]

Specific congenital heart defects in RSH/Smith-Lemli-Opitz syndrome: Postulated involvement of the Sonic Hedgehog pathway in syndromes with postaxial polydactyly or heterotaxia

BIRTH DEFECTS RESEARCH, Issue 3 2003
Maria Cristina Digilio
BACKGROUND RSH/Smith-Lemli-Opitz syndrome is an autosomal recessive syndrome due to an inborn error of cholesterol metabolism and is characterized by developmental delay, facial anomalies, hypospadias, congenital heart defect (CHD), postaxial polydactyly, and 2,3 toe syndactyly. CHD is found in half of the propositi, and a specific association with atrioventricular canal defect (AVCD) and anomalous pulmonary venous return has been demonstrated. METHODS We report on an additional patient with RSH/SLOS presenting with complete AVCD and anomalous pulmonary venous return, and discuss the possible relationship of the Sonic Hedgehog (SHH) pathway as causative factor of these CHDs and those in heterotaxia patients with postaxial polydactyly syndromes. RESULTS Anatomic similarities between heterotaxia and CHDs of several syndromes with postaxial polydactyly have been noted previously, considering the frequent association of AVCD with common atrium in these conditions. It is known that both CHDs of heterotaxia and postaxial polydactyly can be related to abnormalities of the SHH pathway. Cholesterol has a critical role in the formation of normally active hedgehog proteins. It could be hypothesized that specific types of CHDs in RSH/SLOS can be caused by modifications of the SHH protein related to the defect of cholesterol biosynthesis. CONCLUSIONS The specific association of AVCD and anomalous pulmonary venous return in patients with RSH/SLOS and the finding of AVCD ± common atrium in several syndromes with polydactyly leads to the hypothesis that heterotaxia due to SHH anomalies could be involved in a large spectrum of conditions. Perturbations in different components of the SHH pathway could lead to several developmental errors presenting with partially overlapping clinical manifestations. Birth Defects Research (Part A) 67149,153, 2003. © 2003 Wiley-Liss, Inc. [source]

Strabismus and employment: the opinion of headhunters

ACTA OPHTHALMOLOGICA, Issue 7 2009
Stefania M. Mojon-Azzi
Abstract. Purpose:, The aim of this study was to determine the influence of strabismus on an individual's ability to find employment based on the opinion of Swiss headhunters. Methods:, Forty Swiss headhunters retrieved from a Swiss online telephone directory were interviewed using a validated questionnaire in order to determine if strabismus would have an impact on a person's ability to find employment. Photographs of a strabismic man and woman as well as of other computer-generated facial anomalies could be downloaded from the Internet during the interview. Results:, 72.5% of headhunters judged that strabismic individuals would have more difficulties in finding a job than orthotropic persons. These difficulties were judged to be stronger in women than in men (P = 0.006), and in exotropic compared to esotropic persons (P = 0.01). Asked about seven facial anomalies, exotropia was found to have the third and esotropia the fourth (women) or fifth (men) most strongly negative impact on finding employment, after having strong acne and a visible missing tooth. Headhunters judged that persons with strabismus are significantly perceived as less attractive and less intelligent by potential employers. Conclusion:, Visible strabismus negatively influences individuals' ability to find a job and therefore has an impact on their economic status. Successful strabismus surgery realigns the visual axes, producing a normal facial appearance and therefore eliminating the negative impact of strabismus on employability. [source]