Phocomelia and additional anomalies in two sisters.
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.
Schinzel
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Institut für Medizinische Genetik der Universität, Zürich, Switzerland.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002648:Child; D004480:Ectromelia / Q000235:genetics*; D005260:Female; D005704:Gallbladder / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D012886:Skull / Q000002:abnormalities