ABSTRACT
Report of a case of laryngitis beginning within the first 10 hours of life. The epiglottis was red, swollen, and covered by a membrane. Culture of laryngeal swabs isolated Streptococcus pneumoniae. Complete recovery was obtained with antibiotic therapy.
Subject(s)
Laryngitis/etiology , Pneumococcal Infections , Anti-Bacterial Agents/therapeutic use , Humans , Infant, Newborn , Laryngitis/drug therapy , Pneumococcal Infections/drug therapySubject(s)
Myositis , Pregnancy Complications , Pregnancy, Multiple , Adult , Female , Humans , Pregnancy , TwinsABSTRACT
Pseudohypoaldosteronism (PHA) is an uncommon cause of the renal salt loosing syndrome in infancy. The authors describe eight cases in two different families. Hyperaldosteronism persists long after clinical recovery has occurred. Plasma hormone assay allows retrospective recognition of cases overlooked during infancy. This underlines the variability of disease expression among different members of the same family. The high family occurrence rate (over 50%), which is often underestimated, is demonstrated by the study of both families and by a review of published cases. Clinical and biochemical features of familial PHA are discussed. Inheritance is usually on an autosomal dominant basis. However, the small number of reported cases cannot allow any attempt to individualize subgroups of the disorder upon genetic grounds.
Subject(s)
Aldosterone/deficiency , Hyperaldosteronism/diagnosis , Natriuresis , Adult , Child , Child, Preschool , Diagnosis, Differential , Female , Humans , Hyperaldosteronism/epidemiology , Hyperaldosteronism/genetics , Infant , Infant, Newborn , Male , Middle Aged , PedigreeSubject(s)
Fetal Diseases/diagnosis , Pregnancy in Diabetics/diagnosis , Birth Weight , Cause of Death , Congenital Abnormalities/diagnosis , Congenital Abnormalities/etiology , Congenital Abnormalities/mortality , Diagnosis, Differential , Female , Fetal Diseases/etiology , Fetal Diseases/mortality , Humans , Hyperglycemia/complications , Hyperglycemia/diagnosis , Hyperglycemia/mortality , Infant, Newborn , Pregnancy , Pregnancy in Diabetics/mortality , Respiratory Distress Syndrome, Newborn/diagnosis , Respiratory Distress Syndrome, Newborn/etiology , Respiratory Distress Syndrome, Newborn/mortality , Survival AnalysisSubject(s)
Abnormalities, Multiple/genetics , Dwarfism/genetics , Fetal Growth Retardation/genetics , Smith-Lemli-Opitz Syndrome/diagnosis , Abnormalities, Multiple/diagnosis , Child, Preschool , Developmental Disabilities/diagnosis , Developmental Disabilities/genetics , Diagnosis, Differential , Facies , Fatal Outcome , Female , Fetal Alcohol Spectrum Disorders/diagnosis , Fetal Growth Retardation/diagnosis , Follow-Up Studies , Genotype , Humans , Infant , Infant, Newborn , Karyotyping , Male , Phenotype , Pregnancy , Psychomotor Disorders/diagnosis , Psychomotor Disorders/geneticsSubject(s)
Endocardial Fibroelastosis/genetics , Genetic Counseling , Cardiomegaly/diagnosis , Cardiomegaly/genetics , Diagnosis, Differential , Electrocardiography , Endocardial Fibroelastosis/diagnosis , Follow-Up Studies , Heart Failure/diagnosis , Heart Failure/genetics , Humans , Infant , Infant, Newborn , Male , Pedigree , PhenotypeABSTRACT
A newborn male trisomic for 12p is compared with three other 12p trisomics already reported in the literature, as well as with three patients monosomic for 12p. A "type and countertype" opposition is observed for five characters: in the trisomy, turricephaly, shortness of the nose, protruding anthelix, wide palms, and increased LDH-B activity; in the monosomy, protruding occiput, large nose, hypoplasia of the anthelix, narrow palms, and decreased LDH-B activity.