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Arch Ophthalmol. 1999;117:1648-1649.

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

Pallister-Killian syndrome (PKS) was first reported by Pallister in 1977¹ and later by Teschler-Nicola and Killian in 1981.² This condition is caused by a mosaic tetrasomy of chromosome 12p, which is detectable in cultured fibroblastoid cells but generally not in peripheral lymphocytes. Systemic features in childhood are numerous and variable, and include most frequently "coarse" facial features, midface malformations, psychomotor delay, hypotonia, scalp hair sparsity, and variegated lightly and darkly pigmented skin.^1-9 We describe a patient with the novel ocular manifestation of retinal pigmentary mosaicism, and confirm for the first time that the fibroblast cell line from the darkly pigmented skin contains the chromosomal tetrasomy.

Report of a Case

A 4-month-old Hispanic boy was referred for evaluation of an irregular pupil. He was born at 35 weeks to nonconsanguineous parents; the pregnancy was complicated by maternal amphetamine use. The child was noted at birth to have bilateral inguinal hernias and dislocated hips, a . . . [Full Text of this Article]

Comment
Reprints: Sandra M. Brown, MD, Department of Ophthalmology and Visual Sciences, Texas Tech University Health Sciences Center, Sixth and Flint, Lubbock, TX 79430 (e-mail:eyesmb@ttuhsc.edu).

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