[The pseudoachondroplastic form of spondyloepiphyseal dysplasia: apropos of 2 cases].
The Authors report two cases of pseudoachondroplasic dysplasia observed in a child aged 2 years and 5 months and in her father 31 years old. They recall the rarity of this disease, its characteristic and radiological findings and dwell upon differential diagnosis between this rare form of condrodysplasia and achondroplasia.
Cataldo
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Clinica Pediatrica R, Istituto di Medicina Infantile, Palermo, Italia.
Viani
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Albeggiani
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A
D000130:Achondroplasia / Q000000981:diagnostic imaging / Q000235:genetics*; D000328:Adult; D002675:Child, Preschool; D005121:Extremities / Q000000981:diagnostic imaging; D005190:Family; D005260:Female; D006801:Humans; D017880:Limb Deformities, Congenital; D008297:Male; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics; D010641:Phenotype; D011859:Radiography
Forma pseudoacondroplasica della displasia spondiloepifisaria: a proposito di due osservazioni.