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Goldenhar syndrome (GHS) is a complex syndrome characterized by relation of mandibular hypoplasia, abnormality of the ear, ocular dermoid and vertebral disorders and hemi facial macrosomia. Treatment protocol depends on the patient's age and systemic clinical presentations, with a multidisciplinary method often being required. This case report describes a typical 6-year-old female patient who presented to the Department of Pediatric Dentistry, Faculty of Dentistry, University of Medical Sciences, Kerman, Iran with mandibular hypoplasia, facial asymmetry, ear tags and ocular dermoid after plastic surgery. Diagnosis was based on clinical aspects, radiology and laboratory findings. GHS is a developmental complaint that can disturb many aspects of the patient's life; therefore, immediate treatment from birth is necessary. [ABSTRACT FROM AUTHOR]

Background: Russell-Silver syndrome is a rare heterogeneous genetic disorder that is mostly known because of its prenatal and postnatal growth retardation. Patients with Russell-Silver syndrome have syndromic facial appearance, as well as some other common clinical features. Disrupted methylation of 11p15 is the most common genetic abnormality that is seen in these patients, called as one of the tire molecular studies in diagnostic guidelines. Objectives: In the present study, the methylation status of 11p15 was evaluated in a group of children with clinical diagnosis of Russell-Silver syndrome in Iran. Methods: A total number of 15 children with a clinical diagnosis of Russell-Silver syndrome were enrolled in this descriptive study. Children's DNA was extracted by the salting-out method and the 11p15 region was assessed by the methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) method. The correlation of molecular results was then evaluated with clinical features. Results: The mean age of children was 4.5 years and most of them were male. Among 15 children, four children had a confirmed molecular diagnosis of Russell-Silver syndrome according to the MS-MLPA results. All of these four patients had low set ears, high peach voice, micrognathia, failure to gain weight, growth failure, and triangular face. Conclusions: Less than one-third (26.6 %) of our patients had confirmed Russell-Silver syndrome by the MLPA analysis. This experiment showed that Russell-Silver syndrome with abnormal 11p15 methylation was less frequent in our population and showed similar clinical findings in comparison with other studies. [ABSTRACT FROM AUTHOR]

Background: Assisted reproductive techniques (ART) are used with increasing frequency worldwide. The present research was conducted to determine the effects of ART on hearing defects and ear abnormalities. Materials and Methods: In a descriptive, cross-sectional, non-randomized study, the status of hearing and ear abnormalities was assessed in 300 newborns conceived by ART at Royan Institute, Tehran, Iran. This study was performed over a sixteen month period. Data were collected from parents, otoscopic examinations and transiently evoked otoacoustic emissions (TEOAE) tests of the newborns. The external ear was assessed by ottscopic examination, followed by the TEOAE test (an objective test that does not need the infant's collaboration) which was performed by an audiologist. In this test, the OAE wave was registered after a click (stimulus) at 5-20 millisecond intervals with an 82 dB SPL altitude. Data were analyzed by statistical tests. Results: Of the 300 cases examined by otoscopy, two cases (0.66%) had bilateral malformation in the auricle, two (0.66%) had unilateral perforation of the tympanic membrane, five (1.66%) had unilateral retraction of the tympanic membrane, eight (2.66%) had bilateral retraction of the tympanic membrane, one (0.33%) had unilateral tympanic membrane inflammation, one (0.33%) had bilateral tympanic membrane inflammation and one case (0.33%) had wax obstruction of the external ear canal. A total of 289 out of 300 newborns undewent the TEOAE test. Of these, three cases (1.03%) did not have a bilateral registered wave and were diagnosed with bilateral hearing loss. Conclusion: This study shows that hearing and ear screening in newborns conceived by ART is contemplative and emphasizes the profitability of continual check up in these infants. [ABSTRACT FROM AUTHOR]

Background: The diagonal earlobe crease (DELC) has been proposed to be a marker of coronary artery disease (CAD), but this association remains controversial. The aim of the present study was to evaluate the frequency of DELC in patients with CAD. Materials and Methods: One hundred patients with angiographically documented CAD from Tehran Heart Center were evaluated for the presence or absence of ELC. The ELC was said to be present if a patient had a deep diagonal crease extending obliquely from the outer ear canal toward the border of the earlobe without discontinuity covering at least two-thirds of the earlobe length. Results: The prevalence of ELC was 62% (95% confidence interval 59.7-64.6). The frequency of smoking and hyperlipidemia was significantly higher in patients with DELC (P = 0.024 and P = 0.001, respectively). However, frequency of hypertension and diabetes were not significantly different between the two groups. Conclusion: The frequency of DELC in patients with CAD was high in our study. The data suggest that the ELC sign may be a useful marker for the presence of CAD in patients. [ABSTRACT FROM AUTHOR]

Microtia, a congenital deformity manifesting as an abnormally shaped or absent external ear, occurs in one out of 8,000-10,000 births. We ascertained a consanguineous Iranian family segregating with autosomal-recessive bilateral microtia, mixed symmetrical severe to profound hearing impairment, and partial cleft palate. Genome-wide linkage analysis localized the responsible gene to chromosome 7p14.3-p15.3 with a maximum multi-point LOD score of 4.17. In this region, homeobox genes from the HOXA cluster were the most interesting candidates. Subsequent DNA sequence analysis of the HOXA1 and HOXA2 homeobox genes from the candidate region identified an interesting HOXA2 homeodomain variant: a change in a highly conserved amino acid (p.Q186K). The variant was not found in 231 Iranian and 109 Belgian control samples. The critical contribution of HoxA2 for auditory-system development has already been shown in mouse models. We built a homology model to predict the effect of this mutation on the structure and DNA-binding activity of the homeodomain by using the program Modeler 8v2. In the model of the mutant homeodomain, the position of the mutant lysine side chain is consistently farther away from a nearby phosphate group; this altered position results in the loss of a hydrogen bond and affects the DNA-binding activity.