Multiple subcutaneous folds in oculocerebrorenal syndrome of Lowe.

A 3-months old infant born to non-consanguineous parents was evaluated for hypotonia and developmental delay. He had a cataract in left eye, congenital glaucoma and megalocornea in right eye with no other dysmorphism. Anterior fontanelle was widely open. He was hypotonic with diminished tendon reflexes. Hypermobility was noted around both elbows and knees. There were unusual multiple skin folds with generalised increase in subcutaneous tissue noted in the limbs (Figure 1). His weight was between mean and -1SD.