Aase syndrome: novel radiographic features.
We report on a female with hypoplastic anemia and abnormally digitalized thumbs who presented with growth failure and novel osseous radiologic abnormalities. In addition to thumb anomalies, abnormalities of the clavicles, ilia, distal sacrum, and coccyx and described.
Hing
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Division of Medical Genetics, Washington University School of Medicine, St. Louis, Missouri.
Dowton
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SB
D000741:Anemia, Aplastic / Q000151:congenital* / Q000000981:diagnostic imaging / Q000235:genetics; D005260:Female; D006132:Growth Plate / Q000002:abnormalities / Q000000981:diagnostic imaging; D006801:Humans; D007231:Infant, Newborn; D011859:Radiography; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities* / Q000000981:diagnostic imaging