Citation, DOI, disclosures and article data
Citation:
Weerakkody Y, Campos A, Khoshnaw K, et al. Phocomelia. Reference article, Radiopaedia.org (Accessed on 28 Mar 2025) https://doi.org/10.53347/rID-13608
Phocomelia is an extremely rare congenital skeletal disorder that characteristically affects the limbs. It can affect either the upper limbs or lower limbs or both. Phocomelia is also a descriptive term to describe the characteristic limb anomalies occurring with its associated conditions.
It characteristically manifests as a deficiency or shortening of the proximal to mid portions of the limbs.
Associations
Phocomelia can occur sporadically. However, recognized associations include:
Ultrasound
Classically with upper limb involvement, the hands are present, but with variable deficiency and or foreshortening of the arm and/or forearm. The hands may be of normal or abnormal morphology.
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History and etymology
Derived from the Greek phoco meaning "seal" and melia meaning "limb".
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1. Kenny S. Phocomelia--Three Cases. Br J Radiol. 1962;35(415):462-7. doi:10.1259/0007-1285-35-415-462 - Pubmed
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2. Rypens F, Dubois J, Garel L et-al. Obstetric US: watch the fetal hands. Radiographics. 26 (3): 811-29. doi:10.1148/rg.263055113 - Pubmed citation
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3. Reinhard Schumacher, Laurie H. Seaver, Jürgen Spranger. Fetal Radiology. (2010) ISBN: 9783642035593 - Google Books
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4. Lee A, Kratochwil A, Deutinger J et-al. Three-dimensional ultrasound in diagnosing phocomelia. Ultrasound Obstet Gynecol. 1995;5 (4): 238-40. doi:10.1046/j.1469-0705.1995.05040238.x - Pubmed citation
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5. Chitayat D, Stalker H, Vekemans M, Delneste D, Azouz E. Phocomelia, Oligodactyly, and Acrania: The Schinzel-Phocomelia Syndrome. Am J Med Genet. 1993;45(3):297-9. doi:10.1002/ajmg.1320450304 - Pubmed
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6. Trombly JF, Sergeant S, Yeomans ER et-al. Diagnosis of phocomelia by transvaginal sonography. J Ultrasound Med. 1992;11 (6): 309-11. J Ultrasound Med (citation) - Pubmed citation
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