Table 1.

Clinical finding of two brothers with Schimke immuno-osseous dysplasia.

Characteristics	Patient 1	Patient 2
Birth parameters
Gestational age (GW)	35	35.5
Birth weight (kg)	1.49	1.49
Birth length (cm)	41	41.5
Birth complications	X	X
Growth parameters
Developmental delay	X	X
Physical and facial features
Short neck	X	X
Short trunk	X	X
Exaggerated lumbar lordosis		X
Protruding abdomen	X	X
Broad depressed nasal bridge	X	X
Bulbous nasal tip	X
Elongated upper lip	X	X
Skeletal abnormalities
Retarded bone age	X	X
Spondyloepiphyseal dysplasia	X	X
Ovoid dorsally flat vertebrae	X	X
Hypoplastic pelvis	X
Abnormal femoral heads	X	X
Ocular abnormalities
Corneal opacities		X
Dermatologic abnormalities
Pigmented spots	X	X
Hair	Sparse	Sparse
Haematologic Abnormalities
Anaemia
Thrombocytopenia		X
Neutropenia	X
Lymphopenia	X	X
Renal dysfunction
Age at onset of renal dysfunction (years)	4.5	3.5
Nephrotic syndrome	X	X
Progressive renal failure	X	X
Hypertension	X	X
Dialysis	X	X
Kidney transplant	X	X
Immune dysfunction
Recurrent infections	X	X
Lymphopenia	X	X
Endocrine dysfunction
Abnormal thyroid function	X	X
Abnormal growth hormone levels
Vascular dysfunction
Cerebral infarcts		X
Cerebral moyamoya
Sex	M	M
Age of death (years)	10	9

X present; blank absent or not known.