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.
Original language | English |
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Pages (from-to) | 67-69 |
Number of pages | 3 |
Journal | Ophthalmic Genetics |
Volume | 27 |
Issue number | 2 |
DOIs | |
Publication status | Published - 2006 Jun |
Keywords
- Autosomal recessive inheritance
- Hypothyroidism
- Peters anomaly
- Peters plus syndrome
- Thyroid agenesis
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Ophthalmology
- Genetics(clinical)