Table 1

Phenotypic features of 25 patients with Schimke immuno-osseous dysplasia. The 17 with the severe form are in group 1 (this case report) 2 4-8 11 13-15 and the eight with the more benign variant in group 2 4 9-12

FeatureGroup 1 (17)Group 2 (8)All patients (25)
Prenatal onset short stature17/170/817/25
Dysmorphology
 Triangular face4/170/84/25
 Broad nasal bridge10/173/813/25
 Bulbous tip of nose10/172/812/25
 Hair abnormalities5/171/86/25
 Multiple lentigines14/173/817/25
 High pitched voice5/170/85/25
Normal intelligence16/168/824/24
Spondyloepiphyseal dysplasia17/178/825/25
Cellular immune deficiency17/176/623/23
Renal
 Nephrotic syndrome16/178/824/25
 Global/focal segmental  glomerulosclerosis10/134/514/18
 OtherCorneal opacities (3), microdontia (1), coarse, low voice (1), autoimmune haemolytic anaemia with thrombocytopenia (2), autoimmune enteropathy (1), mesangioproliferative glomerulonephritis (1), ventricular septal defect (1)