Ischio-pubic-patellar hypoplasia: is it a new syndrome?
Aplasia/hypoplasia of the patella has been described as an isolated finding or, more commonly, as a part of congenital syndromes. We describe here bilateral absence of the patella in an 11-year-old girl with absence of the ischial and inferior pubic rami bilaterally. Other associated skeletal and soft-tissue deformities are also reported. To our knowledge, the constellation of these findings has not been described previously and represents a unique syndrome.
Habboub
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Department of Radiology - 3953 JPP, University of Iowa College of Medicine, 200 Hawkins Drive, Iowa City, IA 52242, USA.
Thneibat
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D002648:Child; D005260:Female; D006801:Humans; D007512:Ischium / Q000002:abnormalities*; D010329:Patella / Q000002:abnormalities*; D011630:Pubic Bone / Q000002:abnormalities*; D013577:Syndrome