[Metatrophic dysplasia: a case report, etiological considerations and prevalence].
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Diagnosis, Differential↗
Biomedical subjects
E Bermejo
Publications and source records attributed to E Bermejo.
Severe limb deficiencies, vertebral hypersegmentation, and mirror polydactyly: two additional cases that expand the phenotype to a more generalized effect on blastogenesis.
We report on 2 unrelated fetuses with a multiple congenital anomaly pattern of severe limb deficiencies, vertebral/rib alterations, and mirror polydactyly similar to that described previously by us [Urioste et al., Hum Genet 97:214-217, 1996]. In addition, the two cases we present here have a more extense alteration of blastogenesis, expanding the phenotype of the cases previously reported. We have suggested [Urioste et al., Hum Genet 97:214-217, 1996] that this condition may be caused by a mutation in a developmental control gene that affects body-plan organization. The minimal estimate of the prevalence of this new entity in our population (the Spanish Collaborative Study of Congenital Malformations, ECEMC) is 3.0/ 1,000,000 live births.
Abnormalities, Multiple↗
Amelia: analysis of its epidemiological and clinical characteristics.
Eighteen cases of amelia in the Spanish Collaborative Study of Congenital Malformations (ECEMC) were analyzed epidemiologically. Prevalence at birth was 0.15 per 10,000 newborn infants, which is not different from that reported by other authors. Affected females outnumbered males. When compared with the control group, a lower birth weight, shorter gestation, lower placental weight, greater frequency of single umbilical artery, noncephalic presentation at birth, and more frequent maternal vaginal bleeding were observed in amelia cases. There were no significant variations of parental age. None of these patients was exposed to known teratogens, apart from 1 born to a diabetic mother; 3 patients had a genetic condition. Comparison of these variables with other studies is difficult because there is only one study that specifically analyzed amelia. Our data together with previous observations suggest that the genetic basis of amelia might be more important than has been considered previously.
Birth Weight↗
Major congenital malformations in Down syndrome.
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Anus, Imperforate↗
Direct determination of prolintane and its metabolite oxoprolintane in human urine by capillary zone electrophoresis and beta-cyclodextrin-modified micellar electrokinetic chromatography.
This paper describes a fast and simple method for the direct determination of the stimulant prolintane and its principal urinary metabolite, oxoprolintane, in human urine by capillary zone electrophoresis and beta-cyclodextrin-modified micellar electrokinetic chromatography. The determination was performed in phosphate buffer, pH 8.5, with UV detection at 211 nm. The effect of the ionic strength ratio between sample and running electrolyte, pH, sodium dodecyl sulphate and beta-cyclodextrin concentrations, and other factors, on the electrophoretic signals of these drugs was examined. This method can be applied for doping control. The determination limits are 1.0 microgram ml-1 for prolintane and 0.7 microgram ml-1 for oxoprolintane.
Central Nervous System Stimulants↗
Correlation between drug exposure and major malformations.
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Abnormalities, Drug-Induced↗
Epidemiological analysis of the schisis association in the Spanish registry of congenital malformations.
Since its description by Czeizel [1981: Am J Med Genet 10:25-35], there has been general acceptance of the schisis association as a distinct entity although, to the best of our knowledge, no other epidemiological study has confirmed its existence. Here we present an epidemiologic study on schisis defects and their associations with each other in children with and without blastogenetic defects. This study demonstrates that most cases represent the dysmorphogenetic response of the primary developmental field.
Blastocyst↗
Epidemiological analysis of multi-site closure failure of neural tube in humans.
Van Allen et al. [Am J Med Genet 47:723-743, 1993] proposed that there is multi-site initiation of neural tube closure in humans, and that neural tube defects (NTD) represent the failure of one or more of 5 closure sites. We have studied from an epidemiologic perspective 774 liveborn infants with NTD by site of lesion following the multi-site classification proposed by Van Allen et al. [1993]. As predicted by these authors, we could classify all the cases with NTD by the multisite closure model. We have also estimated the prevalence of each failure closure site. This analysis indicates that not all the sites are affected with similar frequency.
Case-Control Studies↗
Epidemiological analysis of rare polydactylies.
This work includes all cases with extra digits (polydactyly) registered from a birth sample of over four million births aggregated from two comparable birth series: the Latin-American Collaborative Study of Congenital Malformations: ECLAMC (3,128,957 live and still births from the 1967 to 1993 period), and the Spanish Collaborative Study of Congenital Malformations: ECEMC (1,093,865 livebirths from April 1976 to September 1993, and 7,271 stillbirths from January 1980 to September 1993). All but 2 of 6,912 registered polydactyly cases fit well into one of the following 11 preestablished polydactyly types (observed number of cases in parentheses): Postaxial hexadactyly (5,345), Preaxial-I hexadactyly (1,018), Seven or more digits (57), synpolydactyly (15), crossed polydactyly (45), 1st digit triphalangism (33), 2nd digit duplication (39), 3rd digit duplication (18), 4th digit duplication (22), Haas polysyndactyly (3), and high degree of duplication (4). The birth prevalence rates observed in both series were similar except for postaxial polydactyly, which was more frequent in the ECLAMC (150.2/100,000) than in the ECEMC (67.4/100,000), as expected due to the higher African Black ethnic extraction of the South-American than of the Spanish populations. This similar frequency for the rare polydactylies (5.4 per 100,000 in South America and 5.7 in Spain), and for each one of the 9 categories, suggests that the values reported here are valid for most populations. The rare polydactylies are frequently syndromal: one third of them (77/236) were found in association with other congenital anomalies, 11.0% (26/236) in MCA cases and 21.6% (51/236) in recognized syndromes.
Fingers↗
Clinical/epidemiological analysis of congenital anomalies associated with diaphragmatic hernia.
Several studies have been published on congenital diaphragmatic hernia (CDH), either as an isolated defect or as part of a multiple congenital anomaly (MCA) pattern. Here we present an epidemiological study designed to measure the association between CDH and a group of 17 selected congenital anomalies in an attempt to identify groups of specific defect patterns. This analysis was done using the data from the Spanish Collaborative Study of Congenital Malformations (ECEMC).
Congenital Abnormalities↗
Reduction of platelet surface GPIb expression induced by polymorphonuclear leukocytes.
It has been demonstrated that soluble factors released from PMNs such as proteases, free radicals and arachidonic acid metabolites are able to induce platelet activation (1). More recently, it has been demonstrated that PMNs can also inhibit platelet functional responses. It has been suggested that the inhibitory effect of PMNs could be related to the release of nitric oxide (NO) (2-3). In contrast, we have previously observed that coincubation of platelets with unstimulated PMNs, results in the inhibition of platelet aggregation and ATP release by a yet non-identified mechanism that does not involves NO (4). Considering that an alteration in surface receptors could be one of the phenomena accounting for impaired platelet responses, in the present study we evaluated the ability of PMNs to modulate the expression of the glycoproteins (GP) involved in platelet adhesion and aggregation, GPIb-IX and GPIIb-IIIa.
Blood Platelets↗
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↗
Holoprosencephaly associated with caudal dysgenesis: a clinical-epidemiological analysis.
We have studied 9 cases with the combination of some form of holoprosencephaly and any degree of caudal dysgenesis. The cases were identified through the Spanish Collaborative Study of Congenital Malformations (ECEMC). Of the 9 cases, 6 infants had an aneuploidy syndrome, one had Meckel syndrome, and 2 cases were of unknown etiology. We determined that the prevalence figure for the association of both conditions in the same child was 0.08 per 10,000 livebirths, and 18.8 times higher for stillbirths (i.e., 1.50/10,000). This prevalence is significantly higher than what would be expected by chance.
Abnormalities, Multiple↗
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↗
Sclerocornea, hypertelorism, syndactyly, and ambiguous genitalia.
We present a child with an MCA pattern of sclerocornea, hypertelorism, pterygium colli, upper limb syndactyly, ambiguous genitalia, abnormal ears and nose, umbilical hernia, congenital heart disease, and normal chromosomes (46,XX). Although the defects observed in this case follow the diagnostic criteria for Fraser syndrome proposed by Thomas et al. [1986: Am J Med Genet 25:85-98], we think that this is a different entity.
Abnormalities, Multiple↗
Short rib-polydactyly syndrome and pericentric inversion of chromosome 4.
We report on a newborn infant with clinical and radiological manifestations of some type of short rib-polydactyly syndrome who died soon after birth. Chromosomal studies on peripheral blood lymphocytes and chondrocytes demonstrated an apparently balanced pericentric inversion of chromosome 4 (present in the mother also). This association may have occurred by chance but, if not, the chromosomal breakpoints could interrupt the gene responsible for short rib-polydactyly syndromes, or else be related to the mechanism of short rib-polydactyly syndromes.
Abortion, Habitual↗
Chromosome 4p16 and osteochondroplasias.
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Achondroplasia↗
[Pulmonary artery sling. A nuclear magnetic resonance study].
We present a symptomatic newborn infant with anomalous pulmonary artery (pulmonary artery sling) studied by magnetic resonance imaging. Of the ones diagnosed by this method, is the first case published in our country and the eight of all that have been reported until this moment. The different methods used for the diagnostic, are discussed. We conclude that, the magnetic resonance imaging is at the moment, the elective diagnostic method.
Echocardiography, Doppler↗