Citation, DOI, disclosures and article data
Citation:
Weerakkody Y, Bell D, Murphy A, et al. Langer-Giedion syndrome. Reference article, Radiopaedia.org (Accessed on 28 Mar 2024) https://doi.org/10.53347/rID-10592
Langer-Giedion syndrome, also known as trichorhinophalangeal syndrome type II, is an extremely rare autosomal dominant genetic disorder.
Pathology
The effects are seen mainly on the skeletal system and primarily involves
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hair: "tricho-"
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nose: "rhino-"
- digits of the hands and feet: "-phalangeal"
However multiple other features are also seen, such as:
- multiple exostoses
- intellectual disability
- loose redundant skin
Genetics
It occurs from a deletion within chromosome 8.
History and etymology
Named after 2,3:
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Andreas Giedion, Swiss radiologist
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Leonard O Langer Jr, American radiologist
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1. Felman AH, Frias JL. The trichorhinophalangeal syndrome: study of 16 patients in one family. AJR Am J Roentgenol. 1977;129 (4): 631-8. doi:10.2214/ajr.129.4.631 - Pubmed citation
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2. Giedion A. Das tricho-rhino-phalangeale Syndrom. (1996) Helvetica Paediatrica Acta, Basel. 21: 475.
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3. Langer LO. Thoracic-Pelvic-Phalangeal Dystrophy. (1968) Radiology. 91 (3): 447-456. Radiology (citation)
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4. Bauermeister S, Letts M. The orthopaedic manifestations of the Langer-Giedion syndrome. Orthop Rev. 1992;21 (1): 31-5. Pubmed citation
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5. Devidayal, Marwaha RK. Langer-Giedion Syndrome. (2006) Indian pediatrics. 43 (2): 174-5. Pubmed
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