[Leri-Weill syndrome (dyschondrosteosis). Description of 2 clinical cases].
We describe two children with Leri-Weill syndrome (Dyschondrosteosis), one of which showed the clinical features at very early age. Stature was moderately reduced in both, due to shortening of the bones of the legs. Furthermore were evident in them the clinical and radiological features of the propositus and of their affected parents are described. The problems concerning the early recognizing of the disease and the genetic inheritance are discussed.
Radetti
G
G
Reparto di Pediatria, Ospedale Generale di Bolzano, Italia.
Pasquino
B
B
Munari
E
E
Mengarda
G
G
D000886:Anthropometry; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*; D010375:Pedigree; D011859:Radiography
Sindrome di Leri-Weill (discondrosteosi). Descrizione di due casi clinici.