Background: We analyzed an original case series of the classic ear-molding method and evaluated the efficacy and complication rate of the method compared to commercial ear-molding products by meta-analysis to draw conclusions on the efficacy of the c...
Chromosomal abnormalities on the short arm of chromosome 2 in the region p11.2 have been associated with developmental delay, intellectual disability, facial anomalies, abnormal ears, skeletal and genital malformations. Here we describe a patient wit...
Background and Objective. The first step in the search for the genetic basis of oral clefts should be the well-accepted classification and clinical data protocols, which are important in distinguishing separate phenotypic groups. The aim of this stud...
Objectives: Congenital hearing loss is a significant health concern, with diverse etiologies encompassing cochlear and cochleovestibular pathologies. Preoperative radiological evaluation in cochlear implant candidates is pivotal for treatment plannin...
Introduction. Since high rates of congenital anomalies (CAs), including facial CAs (FCAs), causally attributed to antenatal and community cannabis use have been reported in several recent series, it was of interest to examine this subject in detail i...
We present a complex chromosomal anomaly identified using cytogenetic and molecular methods. The child was diagnosed during the neonatal period with a multiple congenital anomalies syndrome characterized by: flattened occipital region; slight turrice...
Ring chromosome 15, a rare genetic disease, is very rarely prenatally diagnosed. We present a unique case of fetal ring chromosome 15 with ultrasound findings at 32 weeks of gestation including congenital diaphragmatic hernia, hypoplasia of the aorta...
Introduction: Transimpedance matrix measurement (TIM) is an electrophysiological measurement protocol of the impedance patterns of electrode contacts within the cochlea. Several studies have reported that TIM is an effective tool for the identificati...
Background: Interstitial deletions of chromosome 1q are rare, with about 30 cases reported in the literature. The phenotypical features of the affected subjects described so far include microcephaly, pre- and post-natal growth retardation, psychomoto...
Hemifacial microsomia (HFM) is the second most common congenital craniofacial disease and has a wide spectrum of symptoms. The classic diagnostic criterion for hemifacial microsomia is the OMENS system, which was later refined to the OMENS+ system to...
Hemifacial microsomia is the second most common congenital anomaly of the craniofacial region. Hemifacial microsomia is characterised by unilateral hypoplasia of the ear. Treatment of this condition depends on the severity of the lesion. The treatmen...
Encephalocraniocutaneous lipomatosis (ECCL; Haberland syndrome, #613001) is an extremely rare congenital disorder that is manifested by the involvement of the skin, eyes and central nervous system (CNS). We report two cases of children with ECCL diag...
Microtia is a congenital malformation characterized by a small, abnormally shaped auricle (pinna) ranging in severity. Congenital heart defect (CHD) is one of the comorbid anomalies with microtia. However, the genetic basis of the co-existence of mic...
Background/Objectives: Prominent ear deformity is one of the most common congenital anomalies and may lead to substantial aesthetic and psychosocial distress, particularly in children and young adults. This study evaluated the clinical outcomes of th...