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Lethal multiple pterygium syndrome.

N Van Regemorter, P Wilkin, Y Englert

    American Journal of Medical Genetics
    |April 1, 1984
    PubMed
    Summary
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    Consanguineous parents had two pregnancies complicated by lethal multiple pterygium syndrome. Fetal examination revealed multiple pterygia, cartilaginous fusions, and placental abnormalities, indicating a severe genetic condition.

    Area of Science:

    • Medical Genetics
    • Developmental Biology
    • Teratology

    Background:

    • Multiple Pterygium Syndrome (MPS) is a rare group of genetic disorders characterized by webbing (pterygia) between joints and other congenital anomalies.
    • Consanguinity increases the risk of autosomal recessive genetic disorders due to higher chances of inheriting two copies of a mutated gene.

    Observation:

    • Two pregnancies in a consanguineous couple resulted in spontaneous abortion in the second trimester.
    • Autopsies of the fetuses (10-11 weeks of embryonic age) revealed features consistent with a lethal form of multiple pterygium syndrome.
    • Observed anomalies included multiple pterygia, extensive cartilaginous fusions, and in one fetus, cleft lip and palate.

    Findings:

    • Microscopic examination of placental tissue from both pregnancies showed characteristic villous abnormalities.

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  • These included a scalloped border of the villi and intravillous trophoblastic invaginations.
  • These placental findings may be indicative of underlying fetal genetic pathology.

    • Implications:

    • This case highlights a potential genetic link between consanguinity and lethal multiple pterygium syndrome.
    • The observed placental morphology may serve as a diagnostic marker for this severe fetal condition.
    • Further research into the genetic basis and placental pathology of MPS is warranted to improve diagnosis and counseling.