ABSTRACT
The authors report the case of a girl with psychomotor and growth retardation, ventricular septal defect, patent ductus arteriosus, bulging forehead, prominent philtrum, low nasal bridge, inner epicanthal folds, strabismus, miosis, low set ears with prominence of antihelices, short neck, single transverse crease and camptodactyly of the fourth finger in both hands. G-banded chromosomal analysis revealed a 46, XX, del (6) (p23) chromosome constitution. A review of the phenotypes of the patients known with this chromosome deletion is presented.
Subject(s)
Abnormalities, Multiple/genetics , Chromosome Deletion , Chromosomes, Human, Pair 6 , Female , Humans , Infant, Newborn , Karyotyping , PhenotypeABSTRACT
A new drug, pirifibrate, was investigated in a multicenter study of 100 patients with type IIa, IIb, or IV hyperlipoproteinemia (HLP). After one month of dieting, patients completed six months of treatment with a dose of 1,500 mg/day of pirifibrate. An average fall of about 20% in plasma cholesterol was observed in type IIa and IIb HLP, and more than 50% in the triglycerides in type IIb and IV HLP. Both reductions were statistically significant (P less than 0.00005). Increases in the alpha-lipoproteins were observed in the three types of HLP. The pre-beta-lipoproteins showed a statistically significant fall in type IIb and IV HLP. Variations observed in beta-lipoproteins were significant only in some controls with type IV, HLP, who had low basal levels.
