Biomedical subjects

J Egüés

Publications and source records attributed to J Egüés.

9 recordsLinked to original sources

PubMed1998

[Children with limb reductions in a population of 25,193 malformed newborns: the recognized causes. ECEMC. The Spanish Collaborative Study of Congenital Malformations].

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 corresponded to more than 1,300,000 births. Among these, we identified 851 liver-born and 40 stillborn infants with limb reduction defects. RESULTS: We could identify the cause in 177 (19.87%) of the 891 cases with limb reduction defects. In the analysis by clinical presentation, in 52.19% of the cases the limb deficiencies were the only defect present in the children (isolated), 30.75% presented multiple congenital anomaly patterns, and 17.06% were syndromes. The most frequent etiology was the genetic one. CONCLUSIONS: First, most of infants with limb deficiencies have unknown cause and these defects are most frequently isolated malformations. On the other hand, the results of this analysis permitted the following considerations in relation to the guidance for the diagnosis of infants with limb reduction defects. If the child presents with multiple congenital anomalies (multiply malformed infant) a chromosomal analysis should be performed and it should be determined if the infant was prenatally exposed to a teratogenic agent. If these two aspects are normal, we should clinically analyze if the infant could have a known syndrome. In addition, since in our data 10.32% of isolated cases were due to autosomal dominant genes, a detailed clinical analysis of close relatives should be done to determine if some of them present mild limb deficiencies in order to provide an adequate information to the family.

Arm↗

PubMed1995

Primary midline developmental field. II. Clinical/epidemiological analysis of alteration of laterality (normal body symmetry and asymmetry).

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 midline developmental field complex. Thus, bilateral left-sidedness (with asplenia) and bilateral right-sidedness (with asplenia) have been considered laterality sequences or syndromes if cause is known. Using the malformed infants registered by the Spanish Collaborative Study of Congenital Malformations (ECEMC), we performed a clinical/epidemiological analysis of the relationship between midline defects and alteration of normal body asymmetry and symmetry. The results support the assumption that both conditions could be consequence of disturbances in the midline primary developmental field.

Congenital Abnormalities↗

PubMed1994

Severe spondylocostal dysostosis associated with other congenital anomalies: a clinical/epidemiologic analysis and description of ten cases from the Spanish registry.

We describe 10 cases born to nondiabetic mothers who presented with severe spondylocostal dysostosis (SCD) associated with other anomalies, identified among 20,526 malformed liveborn infants from the Spanish Collaborative Study of Congenital Malformations (ECEMC). We analyze the associated malformations in the 10 cases with severe SCD, as well as in all cases with less severe SCD among children with MCA patterns of unknown cause. Cases with SCD were preferentially associated with caudal dysgenesis, diaphragmatic hernia, and central nervous system anomalies.

Abnormalities, Multiple↗

PubMed1993

Short rib-polydactyly syndrome (SRPS) with anencephaly and other central nervous system anomalies: a new type of SRPS or a more severe expression of a known SRPS entity?

We describe two patients with short rib-polydactyly syndrome (SRPS) from two unrelated Spanish families. These patients present clinical and radiological characteristics that overlap those of the different established types of SRPS. In addition, one patient had anencephaly and the other patient had severe brain abnormalities with a family history of an older sister with anencephaly, and a brother diagnosed with SRPS. This second family is interesting in that the two affected brothers present with different clinical and radiological findings; for example, one had ovoid tibiae and the other did not. This particular family shows that intrafamiliar variation is also observed within SRPS. It remains unsettled whether these cases might be considered a new type of SRPS or a variant of an established entity or whether the differences between the SRPS represent variability or heterogeneity. Molecular studies may answer this question in the near future.

Anencephaly↗

PubMed1981