Congenital hypothyroidism in Peters plus syndrome

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

Research output: Contribution to journalArticle

4 Citations (Scopus)

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 languageEnglish
Pages (from-to)67-69
Number of pages3
JournalOphthalmic Genetics
Volume27
Issue number2
DOIs
Publication statusPublished - 2006 Jun

Fingerprint

Congenital Hypothyroidism
Hypothyroidism
Recessive Genes
Consanguinity
Dwarfism
Anterior Chamber
Lip
Morphogenesis
Thyroid Gland
Extremities
Parents
Phenotype
Krause-Kivlin syndrome

Keywords

  • Autosomal recessive inheritance
  • Hypothyroidism
  • Peters anomaly
  • Peters plus syndrome
  • Thyroid agenesis

ASJC Scopus subject areas

  • Ophthalmology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)

Cite this

Congenital hypothyroidism in Peters plus syndrome. / Kosaki, Rika; Kamiishi, Akiko; Sugiyama, Ryusuke; Kawai, Masataka; Hasegawa, Tomonobu; Kosaki, Kenjiro.

In: Ophthalmic Genetics, Vol. 27, No. 2, 06.2006, p. 67-69.

Research output: Contribution to journalArticle

Kosaki, Rika ; Kamiishi, Akiko ; Sugiyama, Ryusuke ; Kawai, Masataka ; Hasegawa, Tomonobu ; Kosaki, Kenjiro. / Congenital hypothyroidism in Peters plus syndrome. In: Ophthalmic Genetics. 2006 ; Vol. 27, No. 2. pp. 67-69.
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