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Journals and Conferences
The association between cryptophthalmos and multiple congenital malformations has been well documented over the last century. Numerous authors have described cases as the cryptophthalmos syndrome, but recently reports of cases without cryptophthalmos have led several authors to use the eponymic designation Fraser syndrome. We have seen seven cases of… (More)
Two new cases of an unusual chromosome 16 variant, 16p+, in non-related normal carriers are reported.
INTRODUCTION Neuron-specific enolase (NSE) is a sensitive marker of brain injury after hypoxia or ischemia. There are few studies about its usefulness in asphyctic newborns. OBJECTIVE To study the correlation between blood NSE levels and neurological outcome in newborns with hypoxic ischemic encephalopathy. PATIENTS AND METHODS We have determined the… (More)
Lubinsky [Am J Med Genet 3:23-28, 1987] has suggested that the properties of the midline involve early determinative informational processes and are related to the midline's position and definition of the body's plane of symmetry. Opitz [Am J Med Genet 21:175-176, 1985, BD: OAS XXIX(1):3-37 1993] has pointed out that the laterality sequences represent a… (More)
OBJECTIVE Four major characteristics (cryptophthalmos, syndactyly, genital anomalies and affected siblings) and eight minor characteristics (alterations of the nose, ears, larynx, oral clefts, umbilical hernia, renal agenesis, skeletal anomalies and mental retardation) have been defined for the diagnosis of Fraser syndrome. The generally accepted criterion… (More)
BACKGROUND In 2008, a 7-valent pneumococcal conjugate vaccine (PCV7) was introduced into the routine childhood immunization program in Uruguay, with a 2+1 schedule. In 2010, PCV13 replaced PCV7, and the same 2+1 schedule was used. The effect of these pneumococcal vaccines on the incidence of invasive pneumococcal infections (IPD) and on serotype… (More)
INTRODUCTION We present the study of the clinical and epidemiological characteristics of Brachmann-de Lange syndrome in our population. PATIENTS AND METHODS In this study we present the analysis of 13 cases of Brachmann-de Lange syndrome identified among 24,696 infants with congenital defects registered by the Spanish Collaborative Study of Congenital… (More)
A case of transient diabetes "mellitus" in a newborn infant with secondary hypertonic dehydration is presented. Authors review the problematical ethiology of this rare disease and a commentary is made on the adequate control of their case with continuous endovenous infusion of insulin.
OBJECTIVE The purposes of this study were to analyze the causes of limb reduction deficiencies based on a clinical-epidemiological approach and to study the causes by clinical presentation. PATIENTS AND METHODS We have used the data from the Spanish Collaborative Study of Congenital Malformations (ECEMC) during the period from 1976 to 1996, which… (More)
Van Allen et al. [(1973) Am. J. Med. Genet. 47:723-743] provided evidence for multisite closure of the neural tube in humans. Reynolds et al. [(1995) Proceedings of the Greewood Genetic Center 14:70-71] and Seller [(1995) J. Med. Genet. 32:205-207] described 13 and seven cases of noncontiguous neural tube defects (NTDs) respectively and concluded that the… (More)