Diagnosis can be made within the first year of
life. However, clinical appearance is variable and involves the head
(triangular face, exophthalmia, corneal clouding, micrognathia,
retrognathia), the skeleton (onset with arthritis-like episodes affecting
primarily the ankles [tarsal bones] and wrists [carpal bones],
radiologically resulting in osteolytic changes with progressive deformities
and later complete osteolysis and a variable degree of disability secondary
to restricted joint mobility, with additional skeletal features of
multifocal osteolyses, pes cavus, narrow diaphyses, metacarpal anomalies,
and camptodactyly), and the muscles (amyotrophy, cachectic build,
electromyographic abnormalities). Arterial hypertension and renal disease
resulting from arteriolar intima proliferation and media hypertrophy. Focal glomerulosclerosis and proteinuria have been described. Renal
insufficiency may start in the second or third decade of life. Death
resulting from azotemia in these patients has occurred. One patient suffered from valvular pulmonary stenosis. Some patients are
described as having a marfanoid habitus.