Document Detail

Lethal multiple pterygium syndrome: suggestion for a consistent pathological workup and review of reported cases.
MedLine Citation:
PMID:  8986282     Owner:  NLM     Status:  MEDLINE    
We report on 2 brothers with lethal multiple pterygium syndrome (LMPS) born to non-consanguineous parents as late spontaneous abortions. Both fetuses presented with massive nuchal edema, and facial anomalies including cleft palate and broad ribs. Apparently, several subgroups of LMPS exist. Differentiation is difficult, as there is no consistent agreement on a workup protocol for autopsies. We compared the findings in the literature on cases with LMPS, and we suggest a standardized workup as an initial step for more efficient differentiation between various subgroups.
U G Froster; T Stallmach; J Wisser; G Hebisch; M B Robbiani; R Huch; A Huch
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics     Volume:  68     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1997 Jan 
Date Detail:
Created Date:  1997-03-18     Completed Date:  1997-03-18     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  82-5     Citation Subset:  IM    
Department of Obstetrics and Gynecology, University Hospital Zurich, Switzerland.
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MeSH Terms
Abnormalities, Multiple / pathology*
Abortion, Spontaneous*
Fetus / abnormalities*
Pterygium / pathology*

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