Psychosocial development and premorbid skeletal growth in Legg-Calvé-Perthes disease: a study of nineteen patients.

We studied psychosocial development and skeletal growth in 19 newly diagnosed patients with Legg-Calvé-Perthes disease (LCPD). Eleven patients had problems in visuospatial skills and five of 12 school-aged children had learning difficulties. The growth velocity of the patients was evaluated from 4 years before until 2 years after the diagnosis was made. Eight patients had a catch-up growth with +1.2 (0.9-1.7) delta SDS score (SDS: mean and ranges) before the diagnosis. Four patients with short stature and retarded bone age slightly diminished their growth velocity. Overnight serum growth hormone (GH) concentration and insulin-like growth factor I (IGF-I) levels were examined in the first nine consecutive patients. One patient had a high and another had a low mean GH concentration level, whereas all patients had IGF-I levels within normal limits. These results suggest that different kinds of growth disturbances may be associated with LCPD.

Usefulness of chromosome 19 RFLP haplotypes in the diagnosis of myotonic dystrophy.

Three DNA probes (APOC2, PSC11, and LDR152) detecting RFLP polymorphisms were used to test the usefulness of the RFLP approach in myotonic dystrophy (MD) families from the isolated Finnish population. The informativeness of these polymorphisms did not differ from that reported in more mixed populations: in the 13 families of the study most of the 79 meiotic events studied were informative. One known recombinant is included in the study. The highest lod score obtained in the multilocus linkage analysis was z = 5.941 at recombination fraction theta = 0.02. The RFLP results significantly facilitated genetic counseling in problematic cases among the families studied. Although evidence could be found for linkage disequilibrium of the RFLP haplotypes formed in Finnish MD patients, our results do not exclude the possible existence of more than one ancient MD mutation in this population.