Citation, DOI, disclosures and article data
Citation:
Weerakkody Y, Gaillard F, Bell D, et al. Seckel syndrome. Reference article, Radiopaedia.org (Accessed on 18 Apr 2024) https://doi.org/10.53347/rID-12453
Seckel syndrome is an autosomal recessive congenital dwarfing disorder.
The estimated incidence is ~1:10,000. There is no recognized gender predilection.
It is clinically characterized by many features including:
It is considered a type of primordial dwarfism.
Genetics
The abnormal genes have been mapped to two loci on chromosomes 3q and 18p 7,8.
Associations
May show any of the clinical features above.
Additional skeletal features may include:
History and etymology
Named after Helmut Paul George Seckel (1900-1960) 9, a German-American pediatrician.
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9. William Alexander Newman Dorland. Dorland's Illustrated Medical Dictionary. (2018) ISBN: 9781416023647
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