Kosaki Rika, Kamiishi Akiko, Sugiyama Ryusuke, Kawai Masataka, Hasegawa Tomonobu, Kosaki Kenjiro
Department of Pediatrics, Keio University School of Medicine, Shinjuku-ku, Tokyo, Japan.
Ophthalmic Genet. 2006 Jun;27(2):67-9. doi: 10.1080/13816810600678170.
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.
