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- W2008473119 abstract "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." @default.
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- W2008473119 date "2006-01-01" @default.
- W2008473119 modified "2023-09-23" @default.
- W2008473119 title "Congenital Hypothyroidism in Peters Plus Syndrome" @default.
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- W2008473119 doi "https://doi.org/10.1080/13816810600678170" @default.
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