Congenital hypothyroidism in Peters plus syndrome

Ophthalmic Genet. 2006 Jun;27(2):67-9. doi: 10.1080/13816810600678170.

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple*
  • Anterior Chamber / abnormalities*
  • Congenital Hypothyroidism / genetics*
  • Consanguinity
  • Developmental Disabilities / genetics
  • Developmental Disabilities / pathology
  • Dwarfism / genetics
  • Dwarfism / pathology
  • Eye Abnormalities / genetics*
  • Eye Abnormalities / pathology
  • Face / abnormalities
  • Genes, Recessive
  • Humans
  • Infant
  • Male
  • Syndrome