caa a22 4500 467983283 CHVBK 20180323112524.0 cr unu---uuuuu 170328e19900501xx s 000 0 eng 10.1007/BF00210806 doi (NATIONALLICENCE)springer-10.1007/BF00210806 Schinzel A. Institut für Medizinische Genetik der Universität, Rämistrasse 74, CH-8001, Zürich, Switzerland aut Phocomelia and additional anomalies in two sisters [Elektronische Daten] [A. Schinzel] 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. Springer-Verlag, 1990 Human Genetics Springer-Verlag 84/6(1990-05-01), 539-541 0340-6717 84:6<539 1990 84 439 https://doi.org/10.1007/BF00210806 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00210806 text/html Onlinezugriff via DOI NATIONALLICENCE 100 1- Schinzel A. Institut für Medizinische Genetik der Universität, Rämistrasse 74, CH-8001, Zürich, Switzerland aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 84/6(1990-05-01), 539-541 0340-6717 84:6<539 1990 84 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer