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Congenital hypothyroidism in Peters plus syndrome.

Kosaki R, Kamiishi A, Sugiyama R, Kawai M, Hasegawa T, Kosaki K

Department of Pediatrics, Keio University School of Medicine, Shinjuku-ku, Tokyo, Japan.

Peters plus syndrome is a multiple malformation syndrome characterized by a combination of Peters anomaly of the eye and other extraocular defects, including short-limb dwarfism, a thin upper lip, hypoplastic columella, and a round face. Two unrelated children with the typical features of Peters plus syndrome and hypothyroidism have been previously reported in medical literature. Herein, we report a male patient who exhibited the Peters plus syndrome phenotype as well as hypothyroidism and provide further evidence that hypothyroidism may represent an under-recognized feature of Peters plus syndrome. The consanguinity of the parents in the present case supports, but does not confirm, the notion that a homozygous defect in a single autosomal recessive gene might be responsible for the normal morphogenesis of both the anterior chamber and the thyroid gland.

Published 6 June 2006 in Ophthalmic Genet, 27(2): 67-9.
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