A case of hypophosphatasia in an infant showing blue sclerae, harlequin orbits, pathologic lid retraction, papilledema, and craniostenosis was presented. The ophthalmologist is encouraged to examine other members of the family, to obtain x-ray films of long bones, and to check serum alkaline phosphatase and urinary phosphoethanolamine levels in order to confirm the diagnosis. Early recognition of the eye signs of this entity may prevent the ocular and neurologic complications of craniostenosis.
Brenner RL, Smith JL, Cleveland WW, Bejar RL, Lockhart WS. Eye Signs of Hypophosphatasia. Arch Ophthalmol. 1969;81(5):614-617. doi:10.1001/archopht.1969.00990010616003