Sumario de Boletín del ECEMC: Revista de Dismorfología y Epidemiología 2008; Serie V Nº 7

Número completo de: Boletín del ECEMC: Revista de Dismorfología y Epidemiología - 2008 - Serie V Nº 7

Congenital anomalies of human morphology have been classified under two criteria: 1) according to a catalogue of affected organs and systems or, 2) the pathogenic relationship explaining the detected malformations. This second approach seems to be the adequate way to look for the causal mechanisms ...

Michelin baby is a rare syndrome characterized by generalized folds of redundant skin. These features can be present alone or be associated with noncutaneous anomalies. The diagnosis is mainly clinical and it probable reflects multiple underlying disorders. Since the first description by Ross in 19...

Duane anomaly is a congenital form of strabismus clinically characterized by a non-progressive ophthalmoplegia that hinds the ability to move the affected eyes horizontally outward and/or inward. Furthermore, the ocular globe retracts into the orbit, and the palpebral fissure narrows when adduction...

Prader-Willi syndrome (PWS) is a neurogenetic disorder that results from different abnormalities involving chromosome 15, which could have either a (q11-q13) paternal microdeletion, maternal uniparental disomy (UPD) or a defect of the imprinting centre. Recently, it has been observed that the risk ...

The clinical analysis of the main clinical aspects of the infants with congenital defects registered by the ECEMC (Spanish Collaborative Study of Congenital Malformations) between 1980 and 2007, has been performed. Among a total of 2,254,439 newborns surveyed, 35,246 (1.56%), had congenital defects...

Toxoplasmosis is caused by the protozoan parasite Toxoplasma gondii infection. Acute infections in pregnant women can be transmitted to the fetus and cause severe illness (mental retardation, blindness, epilepsy…). We present a review of the effectiveness of the treatment of toxoplasmosis during pr...

The ECEMC (Spanish Collaborative Study of Congenital Malformations) is a research programme, based on a hospital-based, case-control registry of newborn infants in Spain. It was created in 1976 by María Luisa Martínez-Frías and since then it has surveyed a total population of more than 2.5 million ...

The last decade has seen rapid progress and development in the understanding of genetic influences that underlie inter-individual differences in drug action and drug response. Differences in DNA sequences that alter the expression or function of proteins that are targeted by drugs can contribute si...

The mitochondrial diseases or diseases of the oxidative phosphorylation system (OXPHOS) consist of a group of disorders originated by a deficient synthesis of ATP. OXPHOS is composed of proteins codified in the two genetic systems of the cell, the nuclear and the mitochondria genomes and, therefore...

We present a summary of the activity of the two Teratology Information Services: SITTE (for health professionals) and SITE (for the general population) during 2007. The total number of calls received in both services was 4,665 (834 from SITTE and 3,831 from SITE). We also analyze some aspects of as...