"trichorhinophalangeal" meaning in English

See trichorhinophalangeal in All languages combined, or Wiktionary

Adjective

Etymology: From tricho- + rhino- + phalangeal. Etymology templates: {{affix|en|tricho-|rhino-|phalangeal}} tricho- + rhino- + phalangeal Head templates: {{en-adj|-}} trichorhinophalangeal (not comparable)
  1. (anatomy) Relating to the hair, nose, and phalanges (finger or toe bones); applied to Langer-Giedion syndrome. Tags: not-comparable Categories (topical): Anatomy
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          "ref": "1969, Daniel Bergsma, The First Conference on the Clinical Delineation of Birth Defects: Special lectures, March of Dimes:",
          "text": "Doctor Giedeon described several children with what he called the trichorhinophalangeal syndrome because they had involvement of hair, which was sparse and thin and did not grow well, because they had involvement of their phalanges with peculiar cone-shaped epiphyses, and because they had in common a physiognomy characterized by what he called a pear-shaped nose […]",
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        {
          "ref": "2015 September 19, “Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders”, in PLOS ONE, →DOI:",
          "text": "In the case of the trichorhinophalangeal syndrome, gene deletions can cause the disease, which may not be detected by analysis of the panel.",
          "type": "quote"
        },
        {
          "ref": "2015, Ross E Petty, Textbook of Pediatric Rheumatology:",
          "text": "Trichorhinophalangeal syndrome type 1 and the more severe type 3 are autosomal dominant disorders (OMIM #190350 and #190351), arising from mutation of a putative transcription factor (TRPS1).",
          "type": "quote"
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          "ref": "1969, Daniel Bergsma, The First Conference on the Clinical Delineation of Birth Defects: Special lectures, March of Dimes:",
          "text": "Doctor Giedeon described several children with what he called the trichorhinophalangeal syndrome because they had involvement of hair, which was sparse and thin and did not grow well, because they had involvement of their phalanges with peculiar cone-shaped epiphyses, and because they had in common a physiognomy characterized by what he called a pear-shaped nose […]",
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        {
          "ref": "2015 September 19, “Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders”, in PLOS ONE, →DOI:",
          "text": "In the case of the trichorhinophalangeal syndrome, gene deletions can cause the disease, which may not be detected by analysis of the panel.",
          "type": "quote"
        },
        {
          "ref": "2015, Ross E Petty, Textbook of Pediatric Rheumatology:",
          "text": "Trichorhinophalangeal syndrome type 1 and the more severe type 3 are autosomal dominant disorders (OMIM #190350 and #190351), arising from mutation of a putative transcription factor (TRPS1).",
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}

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This page is a part of the kaikki.org machine-readable English dictionary. This dictionary is based on structured data extracted on 2024-09-22 from the enwiktionary dump dated 2024-09-20 using wiktextract (af5c55c and 66545a6). The data shown on this site has been post-processed and various details (e.g., extra categories) removed, some information disambiguated, and additional data merged from other sources. See the raw data download page for the unprocessed wiktextract data.

If you use this data in academic research, please cite Tatu Ylonen: Wiktextract: Wiktionary as Machine-Readable Structured Data, Proceedings of the 13th Conference on Language Resources and Evaluation (LREC), pp. 1317-1325, Marseille, 20-25 June 2022. Linking to the relevant page(s) under https://kaikki.org would also be greatly appreciated.