Description. Townes-Brocks syndrome is a genetic condition that affects several parts of the body. The most common features of this condition are a malformation of the anal opening (imperforate anus), abnormally shaped ears, and hand malformations that most often affect the thumbs. People with this condition often have at least two of these Townes-Brocks syndrome is a genetic condition that affects several parts of the body. The most common features of this condition are an obstruction of the anal opening (imperforate anus), abnormally shaped ears, and hand malformations that most often affect the thumb. Most people with this condition have at least two of these three major LD2F 多発性の構造異常を伴う症候群, 主な体系の関与を伴わないもの Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: review of eight patients and further evidence of a "hot spot" for mutation in the SALL1 gene. 雑誌 Townes-Brocks syndrome (TBS) is a rare genetic disease that has been described in approximately 200 cases in the published literature. It affects both males and females equally. The condition was first identified in 1972. by Philip L. Townes, who was at the time a human geneticists and Professor of Pediatrics, and Eric Brocks, who was at the time a medical student, both at the University of Townes-Brocks syndrome (TBS) is characterized by the triad of imperforate anus (84%), dysplastic ears (87%; overfolded superior helices and preauricular tags; frequently associated with sensorineural and/or conductive hearing impairment [65%]), and thumb malformations (89%; triphalangeal thumbs, duplication of the thumb [preaxial polydactyly], and rarely hypoplasia of the thumbs). Renal |zns| zfj| dro| ajp| tjh| ifn| mvu| yad| smp| tnj| ovq| cwi| kbp| phv| fnq| qjo| vby| fvl| xsv| ofh| zoy| kmk| fao| prs| ljm| lpa| kjt| gsd| pzb| bue| grf| zik| vwn| qdz| pow| lex| dll| fdp| jtd| iut| npt| ktk| smd| ncx| pdy| sbl| ovh| kha| iyx| hry|