[Achondroplasia: molecular study of 28 patients].

Background: The main goal of the study is to investigate in the Spanish population the value of searching for the Gly380Arg mutation in the transmembrane domain of fibroblast growth factor receptor-3 (FGFR3#) as the basis for the molecular diagnosis of achondroplasia.

Patients And Methods: Twenty eight achondroplastic patients were studied. Genomic DNA obtained from blood was used to amplify using PCR a 164 bp segment of FGFR3 encompassing the transmembrane domain.

[Brachmann-de-Lange syndrome in our population: clinical and epidemiological characteristics].

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 Malformations (ECEMC) between April 1976 and June 1996.

Results: The minimum estimation of the prevalence in our population is 0.

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.

Multiply resistant Haemophilus influenzae type b causing meningitis: comparative clinical and laboratory study.

Thirty-five patients with meningitis caused by Haemophilus influenzae type b were admitted to our hospital from January 1981 to December 1984; 60% of the strains were resistant to ampicillin, 65.7% to chloramphenicol, and 57% to both antibiotics. No significant differences in age, sex, previous treatment, clinical symptoms, outcome, and mortality were found between the 20 patients whose strains were resistant to both ampicillin and chloramphenicol and the other 15 patients whose strains were susceptible to ampicillin, chloramphenicol, or both.

Effects of prenatal exposure to ethanol on the maturation of the pyramidal neurons in the cerebral cortex of the guinea-pig: a quantitative Golgi study.

The effects of chronic ethanol consumption during gestation on the development of layer V pyramidal cells was studied quantitatively in the somatosensory cerebral cortex of the newborn guinea-pig. The spread of the basilar dendritic arborizations and counts of dendritic spines on the apical dendrite of neurons that had been processed with the rapid Golgi method were compared with those found in age-matched controls receiving an isocaloric diet without alcohol. There were significant differences in the number of primary basilar dendrites (P less than 0.