BACKGROUND Offspring of women with epilepsy may have an increased risk for congenital malformations, probably attributable to maternal antiepileptic medication. We conducted this population-based study to obtain valid and accurate estimates on major congenital malformations in the offspring of women with epilepsy, based on a large and representative patient cohort. METHODS We identified all w...

Cerebellar hypoplasia and slowly progressive ophthalmological symptoms are common features in patients with congenital disorders of glycosylation type I. In a group of patients with congenital disorders of glycosylation type I with unknown aetiology, we have previously described a distinct phenotype with severe, early visual impairment and variable eye malformations, including optic nerve hypop...

Moebius syndrome consists of congenital complete or partial facial nerve palsy with or without paralysis of other cranial nerves (most commonly an abducens paralysis) and often associated with other malformations of the limbs and orofacial structures. The first description of congenital facial diplegia was given by von Graaefe in 18801 and this was soon followed by other reports. Moebius2 3 dre...

Introduction: Congenital gastrointestinal (GI) malformation occurs due to mal development of GI organs. The diagnosis is based on clinical exam and radiography. The aim of this study was to determine prevalence of gastrointestinal anomalies in Imam Reza hospital deliveries Mashhad, Iran. Materials and Methods: In retrospective descriptive study for one year since 1.8.1391 all deliveries in...

Congenital anomalies of the spine may occur with malformations of the central nervous, cardiovascular, gastrointestinal, respiratory, and genitourinary systems. This is a case of myelomeningocele with unilateral right renal agenesis in a newborn. The patient suffered complications of cerebrospinal fluid leak and meningitis, but was successfully treated and discharged on day 86. In this case, un...

Encephalocraniocutaneous lipomatosis (ECCL) is a congenital hamartomatous disorder characterised by unilateral skin lesions, lipomas, and ipsilateral ophthamological and cerebral malformations. The disorder is thought to represent a localised form of Proteus syndrome. In this report, a child is described with ECCL and a de novo nonsense mutation in exon 29 (S1745X) of the neurofibromatosis type...

and FT4. Pregnant women were classified by hormone status into percentile categories based on laboratory assay and were compared accordingly. The authors found that OH was associated with increased fetal loss, low birth weight and congenital circulation system malformations. SCH was associated with increased fetal distress, preterm delivery, poor vision development and neurodevelopmental delay....

BACKGROUND Congenital anomalies are one of the main causes of morbidity and mortality among infants. The involvement of the central nervous system (CNS) occurs in 21% of cases. OBJECTIVE To identify incidence of CNS malformations and associated factors in newborns at a Terciary Hospital of Porto Alegre. METHOD Case-control study conducted between 2000 and 2005 based on the Latin American Co...

BACKGROUND Little is known about the association between maternal nativity and congenital malformations among Hispanics living in the United States. METHODS We conducted a cross-sectional study to investigate the association between maternal nativity and various congenital malformations among singleton live-births born to Hispanic women in New York from 1993 to 2001. Birth certificates, used ...

BACKGROUND The Latin American Collaborative Study of Congenital Malformations (ECLAMC) is an epidemiological surveillance system operating in 11 South American countries since 1969. AIM To analyze the Congenital Malformation prevalence rate at birth from 2001 to 2010 in Chilean Hospitals participating in ECLAMC. To compare these rates with those of the period 1982-1994. MATERIAL AND METHODS...