RESUMO
We report on 2 brothers with lethal multiple pterygium syndrome (LMPS) born to non-consanguineous parents as late spontaneous abortions. Both fetuses presented with massive nuchal edema, and facial anomalies including cleft palate and broad ribs. Apparently, several subgroups of LMPS exist. Differentiation is difficult, as there is no consistent agreement on a workup protocol for autopsies. We compared the findings in the literature on cases with LMPS, and we suggest a standardized workup as an initial step for more efficient differentiation between various subgroups.
Assuntos
Anormalidades Múltiplas/patologia , Aborto Espontâneo , Feto/anormalidades , Pterígio/patologia , Feminino , Humanos , Masculino , GravidezRESUMO
We report on prenatal and postnatal findings in 4 consecutive fetuses with a pattern of severe congenital anomalies who were born to a healthy nonconsanguineous couple. The spectrum of malformations includes diaphragmatic defects, hypoplastic lungs, omphalocele, limb deficiencies, syndactyly of toes, and ossification defects of the skull. This specific spectrum of anomalies is not fully compatible with that of any established syndrome. No prenatal exposure to any possible teratogen was found. Family history is suggestive for autosomal recessive inheritance, even though germ-line mosaicism in one of the parents cannot completely be excluded.
Assuntos
Anormalidades Múltiplas/genética , Diafragma/anormalidades , Feto/anormalidades , Deformidades Congênitas dos Membros , Ossificação Heterotópica , Crânio/anormalidades , Anormalidades Múltiplas/diagnóstico por imagem , Feminino , Feto/diagnóstico por imagem , Humanos , Masculino , Linhagem , Gravidez , Diagnóstico Pré-Natal , Radiografia , Síndrome , Ultrassonografia Pré-NatalRESUMO
Knowledge about blood pressure and practice in terms of its measurement are two important indicators for problem areas in cardiovascular disease prevention. This paper analyses these two indicators based on a representative Health Survey (SOMIPOPS) in order to illustrate the potential of such surveys. The results demonstrate that interesting clues to preventive action can indeed be obtained. In addition, time series analyses could potentially be a basis for the continuous evaluation of health services in this area.