Among other functions, the Notch signaling pathway contributes to the development of somites [4] in animals. It involves a cell signaling mechanism with a wide range of functions, including cellular differentiation [5], and the formation of the embryonic structures (embryogenesis [6]). All multicellular animals use Notch signaling, which is involved in the development, maintenance, and regenera...

OBJECTIVE Myelomeningocele may be isolated but more frequently is associated with other anomalies. Congenital heart disease occurs with different incidence rate in myelomeningocele which is observed more frequently with skeletal malformations. METHODS This study was undertaken in the Children's Hospital Medical Center between 2010 to 2012 to evaluate 75 myelomeningocele patients for cardiac a...

BACKGROUND Goldenhar syndrome (oculoauriculovertebral dysplasia) is a rare congenital anomaly with unknown etiology and consists of non accidental association of hemifacial microsomia, auricular anomalies, epibulbar dermoid and vertebral anomalies. Although some malformations are more frequent in infants of diabetic mothers, developmental defects of first and second branchial arch is not a comm...

References 1 Pai M, Denkinger CM, Kik SV, et al. Gamma interferon release assays for detection of Mycobacterium tuberculosis infection. Clin Microbiol Rev 2014; 27: 3–20. 2 Diel R, Goletti D, Ferrara G, et al. Interferon-γ release assays for the diagnosis of latent Mycobacterium tuberculosis infection: a systematic review and meta-analysis. Eur Respir J 2011; 37: 88–99. 3 Sester M, van Leth F, ...

Introduction: A retrospective study of 109 children with anorectal malformations (ARMs) was performed to find the incidence of associated congenital anomalies. Material and methods: 109 consecutive children with ARMs were treated between 1992 and 2008. Analysis included sex, duration of pregnancy, body weight at birth and APGAR score, type of ARM and any associated anomalies. Anorectal malforma...

INTRODUCTION We report for the first time a unique case of VACTERL (vertebral anomalies, anal atresia or imperforate anus, cardiac anomalies, tracheoesophageal fistula, renal and limb defect) spectrum associated with portal hypertension. The occurrence of both VACTERL spectrum and extrahepatic portal hypertension in a patient has not been reported in the literature. We examined whether or not t...

Danforth's short tail (Sd) mutant mice exhibit defects of the neural tube and other abnormalities, which are similar to the human vertebral anomalies, anal atresia, cardiac defects, tracheosophageal fistula and/or esophageal atresia, renal and radial abnormalities, and limb defects (VATER/VACTERL) association, including defects of the hindgut. Sd has been shown to underlie ectopic gene expressi...

using criteria put forth by Verloes [1], patients with CHARGE syndrome show varying phenotypes that considerably overlap those of other syndromes such as Kallmann syndrome, VACTERL association (vertebral anomalies, anal atresia, cardiac defects, tracheoesophageal fistula, esophageal atresia, renal anomalies, and limb defects), and 22q11.2 deletion syndrome [3,6,7]. Chromosome 22q11.2 deletion i...

Lumbar disc herniation is characterized with low back and leg pain resulting from the degenerated lumbar disc compressing the spinal nerve root. The etiology of degenerative spine is related to age, smoking, microtrauma, obesity, disorders of familial collagen structure, occupational and sports-related physical activity. However, disc herniations induced by congenital lumbar vertebral anomalies...

Goldenhar's syndrome (oculo-auriculo-vertebral dysplasia) is characterised by epibulbar dermoids, auricular appendages, and vertebral anomalies including occipito-atlanto fusion, wedge and block vertebra, hernivertebra, spina bifida, and/or scoliosis. In addition to the above anomalies there are unilateral colobomas and occasionally microphthalmia; cataract or atrophy of the iris. The ears show...