Drummond Syndrome
Drummond Syndrome (Idiopathic Hypercalcemia; Blue Diaper Syndrome)
General: Autosomal recessive; manifests itself in infancy; defective intestinal transport of tryptophan, which oxidizes to indigo blue and stains the diaper blue.
Ocular: Sclerosis of optic foramina (occasionally); prominent epicanthal folds; nystagmus; strabismus; peripheral retinal atrophy; papilledema; optic atrophy; microcornea; hypoplasia of the optic nerve; abnormal eye movements.
Clinical: Dwarfism; osteosclerosis; craniostenosis; depressed bridge of nose; "elfin-like" face; mental retardation; anorexia; vomiting; constipation.
Chen Y, et al. The ocular abnormalities of blue diaper syndrome. Metab Pediatr Syst Ophthalmol 1991; 14:73-75.
Drummond KN, et al. The blue diaper syndrome: familial hypercalcemia with nephrocalcinosis and indicanuria: a new familial disease with definition of the metabolic abnormality. Am J Med 1964; 37:928.
Harley RD, et al. Idiopathic hypercalcemia of infancy: optic atrophy and other ocular changes. Trans Am Acad Ophthalmol Otolaryngol 1965; 69:977.
General: Autosomal recessive; manifests itself in infancy; defective intestinal transport of tryptophan, which oxidizes to indigo blue and stains the diaper blue.
Ocular: Sclerosis of optic foramina (occasionally); prominent epicanthal folds; nystagmus; strabismus; peripheral retinal atrophy; papilledema; optic atrophy; microcornea; hypoplasia of the optic nerve; abnormal eye movements.
Clinical: Dwarfism; osteosclerosis; craniostenosis; depressed bridge of nose; "elfin-like" face; mental retardation; anorexia; vomiting; constipation.
Chen Y, et al. The ocular abnormalities of blue diaper syndrome. Metab Pediatr Syst Ophthalmol 1991; 14:73-75.
Drummond KN, et al. The blue diaper syndrome: familial hypercalcemia with nephrocalcinosis and indicanuria: a new familial disease with definition of the metabolic abnormality. Am J Med 1964; 37:928.
Harley RD, et al. Idiopathic hypercalcemia of infancy: optic atrophy and other ocular changes. Trans Am Acad Ophthalmol Otolaryngol 1965; 69:977.
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