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1.
Arch Fr Pediatr ; 46(2): 127-8, 1989 Feb.
Article in French | MEDLINE | ID: mdl-2735790

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 therapy
4.
Sem Hop ; 58(15): 927-32, 1982 Apr 15.
Article in French | MEDLINE | ID: mdl-6281909

ABSTRACT

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 , Pedigree
9.
Ann Genet ; 18(2): 81-7, 1975 Jun.
Article in French | MEDLINE | ID: mdl-1081369

ABSTRACT

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.


Subject(s)
Abnormalities, Multiple , Chromosome Aberrations , Chromosome Disorders , Chromosomes, Human, 6-12 and X , L-Lactate Dehydrogenase/blood , Translocation, Genetic , Trisomy , Abnormalities, Multiple/genetics , Dermatoglyphics , Humans , Hydroxybutyrate Dehydrogenase/blood , Infant , Intellectual Disability/genetics , Isoenzymes , Karyotyping , Male , Pedigree , Psychomotor Disorders
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