Congenital primary primitive neuroectodermal tumor of the orbit in a newborn.
Sign Up to like & getrecommendations! Published in 2021 at "European journal of ophthalmology"
DOI: 10.1177/1120672121991047
Abstract: INTRODUCTION Primitive neuroectodermal tumors arise from the progenitor cells of the neural crest, in the central nervous system or other peripheral locations. CASE PRESENTATION We report a rare case of a congenital malignant tumor, diagnosed… read more here.
Keywords: tumor orbit; primary primitive; congenital primary; primitive neuroectodermal ... See more keywords
Congenital Primary Hypothyroidism with the Homozygous Nonsense Mutation P.K1374* in the Thyroglobulin Gene and a Normal-sized Thyroid Gland on Levothyroxine Replacement
Sign Up to like & getrecommendations! Published in 2019 at "Internal Medicine"
DOI: 10.2169/internalmedicine.1163-18
Abstract: Thyroglobulin (TG) gene mutations cause thyroid dyshormonogenesis, which is typically associated with a congenital goiter. We herein report the case of a 64-year-old man with congenital primary hypothyroidism who had a normal-sized thyroid gland on… read more here.
Keywords: mutation; congenital primary; thyroglobulin gene; primary hypothyroidism ... See more keywords
Clinical aspects of congenital primary lymphedema.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of pediatric rehabilitation medicine"
DOI: 10.3233/prm-190642
Abstract: PURPOSE Lymphedema is a specific type of edema with a chronic, progressive nature. The aim of the present study is to report clinical findings related to edema and its location in children with primary lymphedema.… read more here.
Keywords: lymphedema; clinical aspects; medicine; primary lymphedema ... See more keywords
Anterior segment alterations in congenital primary aphakia—a clinicopathologic report of five cases
Sign Up to like & getrecommendations! Published in 2020 at "Indian Journal of Ophthalmology"
DOI: 10.4103/ijo.ijo_2078_19
Abstract: Purpose: To report the clinicopathological features of corneal buttons in patients with congenital primary aphakia. Methods: Five corneal specimens of five patients with congenital primary aphakia who underwent penetrating keratoplasty (PKP) were studied by light… read more here.
Keywords: anterior segment; report; patients congenital; corneal ... See more keywords