Boletín del ECEMC: Revista de Dismorfología y Epidemiología - 2003 - Serie V Nº 2
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Publication Boletín del ECEMC: Revista de Dismorfología y Epidemiología 2003; Serie V Nº 2(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2003-10) Instituto de Salud Carlos III. Instituto de Investigación de Enfermedades Raras (IIER)Sumario de Boletín del ECEMC: Revista de Dismorfología y Epidemiología 2003; Serie V Nº 2Publication Boletín del ECEMC: Revista de Dismorfología y Epidemiología - 2003 - Serie V nº 2(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2003-10) Instituto de Salud Carlos III. Instituto de Investigación de Enfermedades Raras (IIER)Publication Los defectos congénitos en España en el Año Europeo de la Discapacidad(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2003-10) Pastor, AnaPublication Definición de la terminología molecular que es necesaria para la dismorfología y la genética clínica(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2003-10) Martínez-Frías, María LuisaPublication Anomalía de Möebius y el concepto de secuencia malformativa: Importancia del conocimiento y uso adecuado de la terminología(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2003-10) Martínez-Frías, María LuisaA review of the literature shows that a large variety of terms is used to refer to the Möebius anomaly. These include diagnoses such as "Möebius syndrome", "Möebius sequence", "Möebius spectrum", "Möebius syndrome-limb abnormalities" "Möebius sequence-hypogeni- talism-cerebral, and skeletal malformations" and even three types of syndromes numbered "Möebius syndrome 1, 2 and 3", with different chromosomal loci. The Möebius anomaly is believed to comprise paralyses of some cranial nerves and their consequences. Thus, based in the concepts delineated by an International Working Group regarding errors of morphogenesis [Spranger y cols., 1982. J Pediatr 100:160-165], it constitutes a sequence: the "Möebius sequence." As such, it may be observed in different types of malformed infants, whether isolated (with only the Möebius sequence), with multiple congenital anomalies (MCA) patterns, or with different types of syndromes. That is, in multiple clinical presentations with different causes. It is important to keep these concepts in mind, because the term "syndrome" means that all affected infants will have similar characteristics, generally the same cause, and the same recurrence risk. If we do not use the current dysmorphological concepts, the information given to the family may be confuse or, what is worse, erroneous.Publication Monosomía 1p36: Un síndrome clínicamente reconocible(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2003-10) López Grondona, Fermín; Rodriguez, Laura; Mansilla, E; Martinez-Fernandez, Maria Luisa; Arteaga, RM; Gómez-Ullate J; Martínez-Frías, María LuisaPure 1p36 deletion is considered a new delineated syndrome that probably is a contiguous gene syndrome, presenting a pattern of clinical manifestation that may be recognizable. This includes moderate to severe psychomotor retardation, hypotonia, microcephaly, postnatal growth retardation, seizures and craniofacial dysmorphism (deep set eyes, low nasal bridge, large anterior fontanelle, midface hypoplasia) which should lead to perform a chromosomal study particularly focussed on this type of deletion. Terminal region 1p is difficult to visualize and its alterations will only be detected in a High Resolution G-band karyotype, followed by Fluorescence in situ Hybridization techniques (FISH). Here we present a case which was diagnosed as having a 1p36.22 deletion with High Resolution G-band karyotype confirmed by telomeric FISH.Publication Aspectos Clínico-Epidemiológicos de los recién nacidos con anomalías congénitas(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2003-10) Bermejo-Sanchez, Eva; Mendioroz, J; Cuevas Catalina, María Lourdes; López Grondona, Fermín; Rodríguez-Pinilla, Elvira; Martínez-Frías, María LuisaWe have used the data gathered by the Spanish Collaborative Study of Congenital Malformations (ECEMC) during the period 1980-2002, in order to epidemiologically analyze some clinical aspects of a consecutive series of malformed newborn infants. Among a total of 1,838,654 newborns surveyed, 30,531 (1.66%) presented with congenital anomalies detected at birth. Data were analysed before and after the pass of the law permitting voluntary interruption of gestation (VIG) following the detection of anomalies in the fetus. Malformed infants were distributed by clinical presentation as isolated, multiply malformed or syndromes, according to our own classification system [Martínez-Frías et al, 2002: Rev Dismor Epidemiol V(1):2-8]. The 3 forms of clinical presentation are decreasing along the time, as a result of the impact of prenatal detection of anomalies and further VIG in some cases. We also analyzed 17 defects that were selected because of their relatively high frequency at birth, or due to the high morbidity/mortality that they bear, and because their frequency at birth is also monitored in other countries. Most of them show a high clinical heterogeneity, although some (such as gastroschisis, hypospadias, spina bifida, cleft lip, or diaphragmatic hernia) tend to present in their isolated form, while other (such as anophthalmia/microphthalmia) tend to associate to other anomalies. We also performed the etiologic distribution of infants with congenital anomalies in 3 study periods, and showed the number of cases in which the different types of syndromes were identified, as well as the minimal estimate of their frequency at birth and their gene map location, based on the OMIM database. We emphasize the importance of applying all known primary prevention measures, even more during blastogenesis, at the very early stages of pregnancy. On the other hand, we also underline the relevance of clinical analysis of malformed infants in order to organize homogeneous groups to which the epidemiological techniques can be applied. In this way, the statistical findings also will be clinically relevant. This is also important for the molecular studies that may give clues on the causes of congenital defects, as epidemiology of Human Genome can contribute to this kind of research, opening big opportunities in this field.Publication Síndromes muy poco frecuentes(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2003-10) Martínez-Frías, María Luisa; Mendioroz, J; López Grondona, Fermín; Bermejo-Sanchez, Eva; Rodríguez-Pinilla, Elvira; Aparicio, P; Blanco, M; Cuevas Catalina, María Lourdes; Foguet, A.; López, JA; Plaja, P; Pantoja, A; Rodriguez, Laura; Rodríguez, A; Valdivia, L; Vázquez MSThis section is based on two facts: First, that the majority of the malformation syndromes are very few frequent. Second, the progressive generalization in our country of the prenatal diagnosis with a high resolution echography performed to all women between 18-20 weeks of gestation as a Service of the National Health System, together with the possibility of voluntary interruption of gestation if fetal anomalies are detected. Thus, the impact of prenatal diagnosis is that the frequency at birth of these syndromes shows an important and progressive decreasing trend. For these reasons, in addition to the difficulty for pediatricians and geneticists or our population to diagnose these usually rare syndromes, the impact of prenatal diagnosis increases the usual difficulties that the young pediatricians and geneticists have to identify these pathologies. This increases the possibility that some affected patients can remain undiagnosed for a long time, or even never be diagnosed. As started last year in this section of the "Boletín del ECEMC", we present other six syndromes of low frequency in our country.Publication Evolución de ciertas características demográficas de las madres de niños sin defectos congénitos a lo largo de los últimos 26 años y por Comunidades Autónomas(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2003-10) Martínez-Frías, María Luisa; Bermejo-Sanchez, Eva; Rodríguez-Pinilla, Elvira; Cuevas Catalina, María Lourdes; Grupo Periférico del ECEMCIn this study we analyzed the evolution of maternal age along time (the last 26 years) and by Spanish Regions. We also estimated the sex ratio by each year of maternal age in the first pregnancy and in women with more than one previous pregnancy. The results showed that in all Spanish Regions, with some differences among them, there was an important increase in maternal age as the number of sibs increased. We also observed throughout the country an increase in the number of women working outside of the home. Additionally, the sex ration in the first pregnancy by each year of maternal age showed a high proportion of males in each maternal age from 15 years of, age to 36, but from 37 onwards, there were more females than males. This inversion was not observed in mothers with more than one previous pregnancy, who had more males than females in almost all ages. The progressive incorporation of women to the workforce is one of the factors used to explain the observed increasing age for the first pregnancy. This increasing maternal age could have different consequences, such as the alleged potential effect on the sex ratio at birth. Several authors have tried to explain these changes by applying the Trivers and Willard's model that hypothesizes that vertebrates adaptively vary the sex ratio of their offspring in response to the mother´s physical condition. We posit that this relationship is more complex than this. The notable advances in biomedical scientific knowledge and obstetric care have had a marked influence on human beings, not only as it relates to reproduction but also during all the stages of their lives. This influences all adaptive biological mechanisms that, together with the physiological differences with animals including primates, does not make it possible to apply the Trivers and Willard model to human beings.Publication Aspectos clínicos y epidemiológicos de los síndromes de Apert y Crouzon en España(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2003-10) Martínez-Frías, María Luisa; Aparicio, Pilar; Arroyo, I; Ayala, Alba; Blanco, M; Castro, S; Cucalón, F; Egüés, J; Félix, V; Galiano, J; García, A; Gómez-Ullate, J; González de Dios, J; Jiménez, N; Juliani, J; Lara, A; Nieto, C; Paisán, L; Rosa, A; Vázquez, MSApert and Crouzon syndromes are the most frequent ones among those syndromes with craniosynostosis. We have used data from the Spanish Collaborative Study of Congenital Malformations (ECEMC), to analyze some clinical and epidemiological characteristics of both syndromes. A total of 19 cases of Apert and 21 cases of Crouzon syndromes were identified among 1,914,726 liveborn infants. Their birth prevalence has diminished along the time although the decrease is only statistically significant for Crouzon syndrome. Mean parental ages, and mean differences between the parental ages, are significantly higher in Apert cases than in controls, what is indicating a relationship between paternal age and mutations for this syndrome. The differences between the parental ages of Crouzon cases and controls are not statistically significant. All the cases with Apert syndrome of our series were the first occurrence in the family, while 38.10% of the Crouzon cases were familial. We also observed a significant increasing linear trend in the frequency of infants with Apert syndrome, with the increasing paternal age, which is more noticeable since the age of 35 years. However, this is not observed for Crouzon cases whether sporadic or familial. Regarding the clinical aspects, Apert syndrome is more frequently associated to other defects than Crouzon syndrome. With respect to the affectation of hands in the Apert cases, the most frequent defect was the so-called "mitten hand", wich was present in 50% of our cases. In 28.57% the first finger was separated from the rest that are fused. Interestingly, in one case only the fifth finger was separated for the other four that remain fused.Publication Utilización de medicamentos durante el tercer trimestre de la gestación(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2003-10) Rodríguez-Pinilla, ElviraPublication Vigilancia Epidemiológica de Anomalías Congénitas en España en los últimos 23 años (periodo 1980-2001)(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2003-10) Bermejo-Sanchez, Eva; Cuevas Catalina, María Lourdes; Mendioroz, J; Martínez-Frías, María LuisaWe have analysed data from the ECEMC database, gathered in the period 1980-2002, during which a total of 1,838,654 newborn infants were surveyed. The ECEMC programme covered 25.6% of total births occurred in Spain in 2001. We have calculated the global frequency of infants with congenital anomalies in different periods of time (before or after the passing of the law permitting voluntary interruption of gestation -VIG- following prenatal detection of anomalies). This allows to figure out the baseline frequency of congenital anomalies (corresponding to the period 1980-1985), and to assess the impact of VIG on the birth prevalence by comparing the baseline frequency of congenital anomalies with the frequency registered after 1985. The global frequency is decreasing over the years, and in 11 out of 17 Spanish Autonomic Regions we have also observed significant decreases of the frequency along the time. All those decreases are attributable to VIG. We have also studied the time distribution of the frequency of some selected anomalies, as well as their geographical distribution, and both are highly influenced by VIG. Nevertheless, the information on VIG is rather scarce. We consider that if it is not registered on a routine basis, it will be impossible to perform analytic studies on the causes of birth defects and to evaluate any preventive measure. Another question that will have to be approached in years to come is the distribution of birth defects depending on the country the parents come from, as immigration from other countries is increasing in Spain. Finally, we consider that even though the birth prevalence of these pathologies is decreasing as a consequence of the prenatal diagnosis and the possibility of voluntarily interrupting the gestation, it is necessary to search for primary prevention measures in order to get infants being born healthy.Publication Resultados de las llamadas recibidas por el Servicio de Información Telefonica sobre Teratogenos Español (SITTE) y por el Servicio de Informacion Telefónica para la Embarazada (SITE) durante el año 2002(Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2003-10) Mejías-Pavón, C; Rodríguez-Pinilla, Elvira; Dequino, G del V; Fernández-Martín, P; Rato Barrio, B; Martínez-Frías, María LuisaWe present the results of the Spanish Teratology Information Services (SITTE addressed to health professionals and SITE addressed to the general population) during 2002. The total number of calls received in both services was 5,587 (1,416 of them by the SITTE and 4,171 by the SITE). As in the last years, the most frequent enquiry in both services was the drugs exposure during pregnancy. However, we would like to point out that questions on environmental and working chemicals products are increasing. Probably this is so because of a higher concern in this area on primary prevention of congenital malformations.