Case Reports
doi: 10.1002/(sici)1096-8628(19970110)68:1<82::aid-ajmg16>3.0.co;2-k.
Lethal multiple pterygium syndrome: suggestion for a consistent pathological workup and review of reported cases
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- PMID: 8986282
- DOI: 10.1002/(sici)1096-8628(19970110)68:1<82::aid-ajmg16>3.0.co;2-k
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Case Reports
Lethal multiple pterygium syndrome: suggestion for a consistent pathological workup and review of reported cases
Am J Med Genet.
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Abstract
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.
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