BACKGROUND Prior investigations have not identified a major locus for vertebral malformations, providing evidence that there is genetic heterogeneity for this condition. WNT3A has recently been identified as a negative regulator of Notch signaling and somitogenesis. Mice with mutations in Wnt3a develop caudal vertebral malformations. Because congenital vertebral malformations represent a sporad...

OBJECTIVE To study the incidence and spectrum of central nervous system (CNS) malformations confirmed by computerized tomography (CT), or magnetic resonance imaging (MRI) in a Saudi newborn population of Riyadh over a 10-year period, and to compare our findings with those in the published literature. METHODS This is a retrospective analysis of prospectively collected data on all inborn babies...

Two unrelated newborn infants with multiple malformations were found to have complete trisomy 9 in all cells examined. In both, the phenotype was similar, consisting of characteristic facial appearance (microphthalmia, bulbous nose, micrognathia, cleft palate, low set ears), skeletal abnormalities (dislocated joints, flexion contractures of the fingers), cardiovascular malformations (persistent...

Vascular anomalies are classified into vascular tumors and vascular malformations based on the classification system of the International Society for the Study of Vascular Anomalies (ISSVA). Vascular tumors are characterized by proliferation and tumor enlargement, and the most common vascular tumor is infantile hemangioma, while a less common vascular tumor is hemangiopericytoma. Vascular malfo...

One hundred and sixty nine patients with anorectal malformation were studied: there were 108 boys, 60 girls, and one case of intersex. Low malformations were more common in both sexes. Over half the subjects had associated malformations. These were more common in the group with high malformations. There was no difference between the sexes in this respect. A family history of similar malformatio...

Inbreeding may lead to morphological malformations in a wide variety of taxa. We used genetic markers to evaluate whether malformed urodeles were more inbred and/or had less genetic diversity than normal salamanders. We captured 687 adult and 1,259 larval tiger salamanders (Ambystoma tigrinum tigrinum), assessed each individual for gross malformations, and surveyed genetic variation among malfo...

Venous malformations are a common form of vascular anomaly that cause pain and disfigurement and can be life threatening if they involve critical organs. They occur sporadically or in a familial form, where multiple lesions are usually present. We have identified a large kindred showing autosomal dominant inheritance of venous malformations. Using this family we confirm linkage of a familial fo...

This study recorded the rate of congenital malformations in 10000 births at a referral hospital in Gorgan, Islamic Republic of Iran in 1998-99. The overall incidence of congenital malformations was 1.01% (1.19% in males and 0.76% in females). Anomalies of the musculoskeletal system had the highest incidence (0.38%), followed by central nervous system (0.28%) and genitourinary system (0.25%). Th...

background: radiation-induced molecular changes on the endothelial surface of brain arteriovenous malformations (avm) may be used as markers for specific vascular targeting agents. in this study, we examined the level of expression of platelet endothelial cell adhesion molecule-1 (pecam-1) on brain endothelial cell surface after radiation treatment, with the aim of targeting the radiation-induc...

Mothers exposed to Antiepileptic drugs (AEDs) are at high risk to born babies with orofacial malformations such as cleft lips. About 9 percent of congenital abnormalities in babies of mothers with epilepsy relates to orofacial abnormalities. Maintaining safe antiepileptic drugs for millions of mothers with epilepsy is very important. Researches show that new AEDs have less side effects than the...