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J L Frías

Publications and source records attributed to J L Frías.

27 records · Page 2Linked to original sources
PubMed1992

Tracheoesophageal fistula, gastrointestinal abnormalities, hypospadias, and prenatal growth deficiency.

We studied 2 sibs, born to consanguineous parents, who presented with an MCA pattern which includes low birthweight, tracheoesophageal fistula, duodenal atresia, extrahepatic biliary atresia, hypoplastic pancreas, and hypospadias. This constellation of congenital anomalies appears to be a previously unreported autosomal recessive syndrome. A computerized search of the data files of the Spanish Collaborative Study of Congenital Malformations (ECEMC) identified 3 other unrelated infants with intestinal atresias, hypospadias, and low birth weight. These cases may represent a milder expression of the same syndrome.

Abnormalities, Multiple↗
PubMed1991

Value of clinical analysis in epidemiological research: the Spanish registry experience.

Using data from the Spanish Collaborative Study of Congenital Malformations (ECEMC), a hospital-based, case-control study and surveillance program, we investigated the potential value of registry systems in the identification of causes of congenital defects when their methodology includes (1) detailed reporting and coding of all anomalies present in each child, whether major or minor, (2) clinical analysis and coding of the global pattern of anomalies present in each infant, and (3) classification of all children studied according to their clinical presentation. These approaches provide great specificity and flexibility in the retrieval and analysis of data. Not only do they permit the study of specific anomalies, but also the analysis of children with MCA patterns, as well as the study of the relationship of specific defects with the rest of the anomalies present in a child. To illustrate this point, we present general data on 15,307 malformed children and more specific information on 153 cases of anal atresia/stenosis identified among the 753,410 live-births surveyed by the ECEMC between April 1976 and September 1989.

Abnormalities, Multiple↗
PubMed1991

Bartsocas-Papas syndrome: three familial cases from Spain.

We report on 3 Spanish sibs with the Bartsocas-Papas syndrome. This appears to be the seventh reported family; all but one of them are of Mediterranean origin. We propose that a generalized vascular disruption is the most likely pathogenetic mechanism for the anomalies found in this syndrome.

Face↗
PubMed1990

Clinical/epidemiological analysis of malformations.

To investigate the heterogeneity of congenital malformations, we analyzed the distribution of 14 selected anomalies among 11,421 children with isolated defects and with different patterns of multiple congenital anomalies (MCA). Our study showed a marked variability in the distribution of each of these malformations. For example, although anophthalmia/microphthalmia, cleft palate, and limb deficiency were observed in all etiological categories of syndromes, no case with anencephaly was identified among the 1,244 children with different syndromes. Diaphragmatic hernia, esophageal atresia +/- tracheoesophageal fistula, and gastroschisis were not found in any monogenic syndrome in this sample. These observations may be of help to the clinician in the evaluation of individual children with MCA.

Abnormalities, Multiple↗
PubMed1986

[Frequency of congenital defects in Spain: 1976-1983].

The Spanish Collaborative Study of Congenital Malformations (ECEMC) has analyzed 414,434 newborns in 45 hospitals in the last eight years (1976-1983). Amongst them 8,272 showed some birth defect detectable within the three first days of life (2%). A study on the incidence of birth defects classified according to their presentation in the newborn is carried out. We try to show importance of doing a careful clinical analysis of the cases in order to form groups as much homogeneous as possible from an etiopathogenic point of view. This is an essential requirement to approach with guarantees any epidemiological analysis. We also show the results of the epidemiological surveillance performed over 15 birth defects during the years 1981, 1982 and 1983.

Abnormalities, Multiple↗
PubMed1979

The Johanson-Blizzard syndrome: case report and autopsy findings.

We report the case of a boy with the Johanson-Blizzard syndrome who died at the age of 8 years with complications of pancreatic exocrine insufficiency, and at autopsy was found to have a small thyroid filled with colloid, virtually complete replacement of the pancreas with adipose tissue, and a brain of normal size but with evidence of a cortical developmental defect consisting of abnormalities of gyral formation and of cortical neuronal organization. In addition the boy had postnatal growth failure, apparent severe mental retardation, congenital scalp defects and scalp hair patterning abnormalities, aplasia of the nasal alae, nasolacrimo-cutaneous fistulae, hypotonia, severe congenital sensorineural deafness, and small conical and widely spaced teeth. Evidence is accumulating that this syndrome is likely to be inherited as an autosomal recessive disorder. Our case represents the first report of autopsy findings in the syndrome.

Abnormalities, Multiple↗
PubMedDate not supplied

Metaphyseal dysostosis and congenital nystagmus in a male infant with the fragile X syndrome.

A 14-month-old male with congenital nystagmus, sparse scalp hair, protuberant ears, developmental delay, and radiologic manifestations of mild metaphyseal dysostosis was coincidentally found to have the fra(X) chromosome in 67% of analyzed metaphases. This observation underscores the need for fra(X) analyses in children with developmental deficit of unknown cause.

Developmental Disabilities↗
PubMedDate not supplied

Maternal and fetal factors related to abnormal amniotic fluid.

OBJECTIVE: The objective of this study was to identify maternal and infant characteristics related to alteration of amniotic fluid volume at birth. STUDY DESIGN: A series of 27,145 consecutive malformed newborn infants from the Spanish Collaborative Study of Congenital Malformations (ECEMC) was analyzed. From this total, 3.01% were found to have oligohydramnios and 3.69% were found to have polyhydramnios. RESULTS: As expected, renal/urinary tract and lung defects were associated with oligohydramnios, whereas esophageal and intestinal atresias, neural tube defects, and other central nervous system malformations were associated with polyhydramnios. In addition, other defects such as cardiovascular anomalies, hydrocephaly, and microcephaly were also related to abnormalities of amniotic fluid volume. After excluding the defects whose association to oligo- or polyhydramnios is well recognized, we compared the frequency of different variables among them and with infants with a normal volume of amniotic fluid. In comparison with infants with normal amniotic fluid volume, the groups with oligo- and polyhydramnios had lower birth weight, shorter gestational age and umbilical cord, higher parental ages, and a greater frequency of spontaneous abortions. The differences were more marked for weight in newborn infants with oligohydramnios, and for gestational age, umbilical cord length, number of previous pregnancies, and spontaneous abortions in polyhydramnios cases. Placental weight was lower in oligohydramnios cases than in infants with normal amniotic fluid, and higher in polyhydramnios cases. Parental consanguinity and twinning were more frequent in polyhydramnios. Maternal morbidity was higher in both groups with abnormal amniotic fluid volume, especially for acute diseases such as hypertension, diabetes mellitus, and gestational diabetes. Chromosomal aberrations were more frequent in the oligo- and polyhydramnios groups than in cases with a normal volume of amniotic fluid, which supports the suggestion of performing prenatal cytogenetic analysis in any pregnancy complicated by an abnormal volume of amniotic fluid. CONCLUSION: The fact that all of these results are similar in the control group of healthy infants suggests that at least some of the variables associated with abnormal amniotic volume could be considered as causal factors altering the production of fluid.

Birth Weight↗