Biomedical subjects

Ilija Skrinjarić

Publications and source records attributed to Ilija Skrinjarić.

3 recordsLinked to original sources

PubMed2003

Craniofacial anthropometric pattern profile in hypohidrotic ectodermal dysplasia--application in detection of gene carriers.

Hypohidrotic ectodermal dysplasia (HED) is characterized by clinical manifestations of severe hypodontia or anodontia, hypotrichosis, hypohidrosis, and specific facial appearance. Affected males show complete expression of clinical features of this condition. Their mothers, who are gene carriers, express only some signs, which are usually very mild. Currently available clinical methods are not sufficient for routine identification of the HED heterozygous gene carriers. The purpose of this study was to identify and describe the facial characteristics of HED patients and their mothers and to evaluate the usefulness of craniofacial pattern profile analysis (CFPP) in the diagnosis of this syndrome and the detection of gene carriers. In this study six affected males and their mothers were evaluated. Z-scores for each variable were calculated and compared with age- and sex-matched controls. Anthropometric analysis showed a specific dysmorphic pattern in CST patients that includes decreased skull base width (t-t: -1.67 Z); decreased forehead width (ft-ft: -1.8 Z), decreased midface depth (sn-t: -2.02 Z), markedly decreased total facial height (n-gn: -3.4 Z), and markedly decreased maxillary arc (t-sn-t: -2.5 Z). Gene carriers showed a similar tendency in their pattern profiles. They showed the same tendency towards lower Z-values for forehead width, facial height, and mouth width. The values for these measurements were between those of the affected and healthy controls. The most pronounced findings were increased head width (eu-eu: +2.83 Z), increased lower face width (go-go: +2.06 Z), and reduction of total facial height (n-gn: -0.95 Z). They also displayed increased nose width (al-al: +2.41 Z) and increased biocular distance (ex-ex: +2.01 Z). When used in conjunction with other methods the anthropometrics pattern profile analysis can considerably enhance detection of gene carriers for HED and increase objective assessment of the craniofacial region in HED patients.

Anodontia↗

PubMed2003

Dental and minor physical anomalies in children with developmental disorders--a discriminant analysis.

A discriminant analysis was performed in a sample of 303 children with developmental disorders (DD) and 303 healthy controls (C) in order to test whether some oro-dental and physical minor anomalies could discriminate these groups of children. DD sample comprised 176 mentally retarded (MR) children. 70 children with impaired hearing (IH) and 57 children with impaired vision (IV). The control group included 303 healthy subjects, matched for sex and age. The analysis comprised seven common oral and dental anomalies: median diastema, hypodontia, impacted teeth, microdontia, dens invaginatus, upper lip frenulum and frenulum of the tongue. Minor physical anomalies were assessed by the method proposed by Waldrop et al., as the average number of minor anomalies per individual (W1) and as the weighted score of minor anomalies (W2). Three discriminant functions were obtained by analysis of nine initial variables. Distinct discrimination and considerable distances were found between the centroids of the controls and all groups of DD children. The first two discriminant functions were significant for discrimination between the groups and they explained 98.6% of the total variance. The first function contained 90.2% of information and was defined by the number and weighted scores of minor anomalies. The second variable explained 8.4% of the total variability and was defined by three dental anomalies. The results obtained by the discriminant analysis show that application of dental and minor physical anomalies enables discrimination between the group of healthy children and the groups of children with different developmental disorders.

Adolescent↗

PubMedDate not supplied

[Minor physical anomalies in children with hearing impairment].

The prevalence of minor physical anomalies was studied on a sample of 116 children with idiopathic hearing impairment (66 boys and 50 girls). The control group consisted of 246 children with normal hearing (123 boys and 123 girls) aged from 8 to 12 years. The number of minor anomalies found per child (W1) was compared and the sum of the weighted scores according to Waldrop (W2) in children with normal hearing (CNH) and children with impaired hearing (CIH). A higher minor physical anomalies score was determined per child in the CIH group. In the CNH group there were 4 or more (33.6%) with multiple anomalies, while in the CNH group there were only 7.7% with four or more anomalies. A high score (W2) of five or more anomalies was determined in 18.9% of children in the CIH group and not one subject in the control group. Differences between the CIH and CNH groups for the mean score W1 and W2 were highly significant. The mean score W1 for CIH was 2.90 and for CNH 1.70. The mean score W2 for CIH was 2.93 and for CNH 1.46. According to the obtained results etiological factors probably had a parallel effect in CIH during early development, which lead to physical and hearing impairment. The high incidence found of multiple minor anomalies in CIH suggests a significant role of genetic factors in the aetiology of the basic disorder in the group of analysed children.

Adolescent↗