Citation, DOI, disclosures and article data
Citation:
Weerakkody Y, Bell D, Jones J, Lethal multiple pterygium syndrome. Reference article, Radiopaedia.org (Accessed on 03 May 2024) https://doi.org/10.53347/rID-13483
Lethal multiple pterygium syndrome (LMPS) is a lethal subtype of the multiple pterygium syndrome.
Associations
It is primarily characterized by the presence of pterygia (or wings) present in two or more body areas overlying predominantly the large joints. Accompanying joint contractures are almost always present.
Genetics
The majority of cases carry an autosomal recessive inheritance while a small proportion of cases may carry an X-linked recessive inheritance.
Antenatal ultrasound
Described features are wide and include
Ancillary sonographic features that may be present include
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Treatment and prognosis
As the name implies, the condition is fatal with fetal death occurring usually by mid-gestation 3.
Complications
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1. Chen M, Chan GS, Lee CP et-al. Sonographic features of lethal multiple pterygium syndrome at 14 weeks. Prenat. Diagn. 2005;25 (6): 475-8. doi:10.1002/pd.1166 - Pubmed citation
-
2. Entezami M, Runkel S, Kunze J et-al. Prenatal diagnosis of a lethal multiple pterygium syndrome type II. Case report. Fetal. Diagn. Ther. 13 (1): 35-8. Fetal. Diagn. Ther. (link) - Pubmed citation
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3. Lockwood C, Irons M, Troiani J et-al. The prenatal sonographic diagnosis of lethal multiple pterygium syndrome: a heritable cause of recurrent abortion. Am. J. Obstet. Gynecol. 1988;159 (2): 474-6. - Pubmed citation
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4. De die-smulders CE, Schrander-stumpel CT, Fryns JP. The lethal multiple pterygium syndrome: a nosological approach. Genet. Couns. 1990;1 (1): 13-23. - Pubmed citation
-
5. Zeitune M, Fejgin MD, Abramowicz J et-al. Prenatal diagnosis of the pterygium syndrome. Prenat. Diagn. 1988;8 (2): 145-9. - Pubmed citation
-
6. Graham JM, Smith DW. Smith's recognizable patterns of human deformation. W B Saunders Co. (2007) ISBN:0721614892. Read it at Google Books - Find it at Amazon
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7. Chen CP. Lethal multiple pterygium syndrome associated with omphalocele. Genet. Couns. 2007;18 (4): 451-3. - Pubmed citation
-
8. Hatzissevastou-loukidou H, Georgountzou A, Sotiridou E. Lethal multiple pterigium syndrome: genetic counseling. Genet. Couns. 2006;17 (2): 249-52. - Pubmed citation
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9. Gundogan M, Fong K, Keating S et-al. First trimester ultrasound diagnosis of lethal multiple pterygium syndrome. Fetal. Diagn. Ther. 2006;21 (5): 466-70. doi:10.1159/000093890 - Pubmed citation
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10. Parashar SY, Anderson PJ, Mclean N et-al. Spectrum of features in pterygium syndrome. Asian J Surg. 2006;29 (2): 104-8. doi:10.1016/S1015-9584(09)60118-4 - Pubmed citation
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