Congenital hypothyroidism in Peters plus syndrome

Rika Kosaki, Akiko Kamiishi, Ryusuke Sugiyama, Masataka Kawai, Tomonobu Hasegawa, Kenjiro Kosaki

研究成果: Article査読

6 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)67-69
ページ数3
ジャーナルOphthalmic Genetics
27
2
DOI
出版ステータスPublished - 2006 6月

ASJC Scopus subject areas

  • 小児科学、周産期医学および子どもの健康
  • 眼科学
  • 遺伝学(臨床)

フィンガープリント

「Congenital hypothyroidism in Peters plus syndrome」の研究トピックを掘り下げます。これらがまとまってユニークなフィンガープリントを構成します。

引用スタイル