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Phocomelia and additional anomalies in two sisters

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Summary

Two daughters of non consanguineous normal parents had phocomelia of both lower extremities with 4 toed feet. The older sister also had phocomelia of the left upper extremity with 5 finger rays; she died immediately after birth. Autopsy disclosed a congenital diaphragmatic hernia, common mesentery and agenesis of the gallbladder, and normal female genitalia. In addition, the younger sister showed a bony skull defect, diastasis recti, agenesis of the uterus and agenesis or atresia of the vagina, hypoplasia of the sacrum and hypo/dysplasia of the pelvic bones. Her growth and mental development were normal. The patterns of anomalies of the two sisters do not fit into any of the syndromes featuring phocomelia; there was no prenatal exposure to thalidomide or any other possible teratogen.

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Authors and Affiliations

  1. Institut für Medizinische Genetik der Universität, Rämistrasse 74, CH-8001, Zürich, Switzerland

    A. Schinzel

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  1. A. Schinzel
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Dedicated to Professor W. Lenz on the occasion of his 70th birthday

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Schinzel, A. Phocomelia and additional anomalies in two sisters. Hum Genet 84, 539–541 (1990). https://doi.org/10.1007/BF00210806

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  • DOI: https://doi.org/10.1007/BF00210806

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