[Spondylo-epiphyseal dysplasia. Description of a family].
The authors describe a family, father and two sisters, suffering from spondylo-epiphyseal dysplasia. The disease is an autosomal dominant; genetic counseling depends on an exact diagnosis. The two sisters show some atypical features, which confirm the disease heterogeneity.
Bonora
G
G
Ospedale Predabissi, Divisione Pediatrica, Milano, Italia.
Manzoni
D
D
Rogari
P
P
Pizzi
E
E
Andreoli
A
A
Nedbal
M
M
D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D006130:Growth Disorders / Q000209:etiology; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D011859:Radiography
Displasia spondilo-epifisaria. Descrizione di una famiglia.