title: Congenital hypothyroidism in Peters plus syndrome.
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.
authors.affiliation: Department of Pediatrics, Keio University School of Medicine, Shinjuku-ku, Tokyo, Japan.
authors.forename: Rika
authors.initials: R
authors.lastname: Kosaki
authors.forename: Akiko
authors.initials: A
authors.lastname: Kamiishi
authors.forename: Ryusuke
authors.initials: R
authors.lastname: Sugiyama
authors.forename: Masataka
authors.initials: M
authors.lastname: Kawai
authors.forename: Tomonobu
authors.initials: T
authors.lastname: Hasegawa
authors.forename: Kenjiro
authors.initials: K
authors.lastname: Kosaki
mesh_terms: D000015:Abnormalities, Multiple; D000867:Anterior Chamber / Q000002:abnormalities*; D003409:Congenital Hypothyroidism / Q000235:genetics*; D003241:Consanguinity; D002658:Developmental Disabilities / Q000235:genetics / Q000473:pathology; D004392:Dwarfism / Q000235:genetics / Q000473:pathology; D005124:Eye Abnormalities / Q000235:genetics* / Q000473:pathology; D005145:Face / Q000002:abnormalities; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008297:Male; D013577:Syndrome