Ring d chromosome

General: Variant of the chromosome 13 deletion syndrome; ring chromosomes.

Ocular: Hypertelorism; epicanthal folds; ptosis; microphthalmos; uveal colobomas; abnormal palpebral fissure; strabismus; retinoblastoma.

Clinical: Aplasia of thumbs; mental and physical retardation; trigonocephaly; malrotation of ear; micrognathia; hypoplastic nipple; widely spaced first and second toes.

Collins JF. Handbook of Clinical Ophthalmology. New York: Masson, 1982.

Magalini SI, Scrascia E. Dictionary of Medical Syndromes, 2nd ed. Philadelphia: JB Lippincott, 1981:711.