Citation, DOI, disclosures and article data
Citation:
Weerakkody Y, Campos A, Knipe H, et al. Trichorhinophalangeal syndrome type II. Reference article, Radiopaedia.org (Accessed on 23 Apr 2024) https://doi.org/10.53347/rID-10592
Trichorhinophalangeal syndrome type II, also known as Langer-Giedion syndrome, is an extremely rare autosomal dominant genetic disorder.
Pathology
The effects are seen mainly on the skeletal system and primarily involves
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:
Andreas Giedion, Swiss radiologist
Leonard O Langer Jr, American radiologist
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1. Felman A & Frias J. 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
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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
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5. Devidayal, Marwaha RK. Langer-Giedion Syndrome. (2006) Indian pediatrics. 43 (2): 174-5. Pubmed
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