Congenital hypothyroidism in Peters plus syndrome.
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.
Kosaki
Rika
R
Department of Pediatrics, Keio University School of Medicine, Shinjuku-ku, Tokyo, Japan.
Kamiishi
Akiko
A
Sugiyama
Ryusuke
R
Kawai
Masataka
M
Hasegawa
Tomonobu
T
Kosaki
Kenjiro
K
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