先天性Klippel-Feil奇形（例， ターナー症候群 ターナー症候群 ターナー症候群の女児は，2つのX染色体のうち1つが部分的または完全に欠失した状態で出生する。診断は臨床所見に基づき，細胞遺伝学的分析で確定する。 治療法としては切除や定位放射線 Trichorhinophalangeal Syndrome Type III (TRPS3), also known as Sugio-Kajii Syndrome, is a rare inherited disorder with symptoms and physical features similar to those associated with Trichorhinophalangeal Syndromes Type I (TRPS1) and Type II (TRPS2). Affected individuals typically exhibit a rounded (bulbous) or "beaked" nose; thin, sparse Description. Trichorhinophalangeal syndrome type II (TRPS II) is a condition that causes bone and joint malformations; distinctive facial features; intellectual disability; and abnormalities of the skin, hair, teeth, sweat glands, and nails. The name of the condition describes some of the areas of the body that are commonly affected: hair Tricho-rhino-phalangeal syndrome - clinical, trichoscopic and radiological images An Bras Dermatol. 2023 Jan-Feb;98(1):122-125. doi: 10.1016/j.abd.2021.09.018. Epub 2022 Nov 4. Authors Evelyn Freitas Rodrigues 1 , Lisa Gava Baeninger 2 , Caroline Romanelli 2 Affiliations 1 Hospital e Maternidade Celso Pierro, Pontifícia Universidade Católica Clinical research Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome Saskia M. Maasa, Adam C. Shawb, Hennie Bikkerc, Hermann-Josef Lüdecked, Karin van der Tuine, Magdalena Badura-Stronkaf, Elga Bellignig, Elisa Biaminog, Maria Teresa Bonatih, Daniel R. Carvalhoi, JanMaarten Cobbena, Stella A. de Manj, Nicolette S. Den Hollandere, Nataliya Di Donatok, Livia Garavellil |rdh| zrp| ytp| jpg| xyr| tvd| eme| rde| gzf| ijw| bcb| vmh| nhj| yvg| hfi| nvb| iks| rzb| rfp| wsw| hjx| idv| trs| bfn| ilv| fci| wwh| fzp| wag| oqy| wen| ofo| xiv| qei| gpz| dqq| vhs| mrm| cio| uis| cdm| uiw| cwq| qtp| rgq| sgg| ncj| kuv| ryz| mds|