Pentasomy X with multiple dislocations.
We describe a pentasomy X (49,XXXXX) patient whose multiple dislocations led to a consideration of the Larsen syndrome. Review of the 11 reported cases of pentasomy X showed that elbow dislocations are known to occur in this syndrome. Our patient is the first to present hypoplasia of the glenoid process with consequent should dislocation. Clinical and radiologic findings of previously reported cases of pentasomy X are reviewed.
D000015:Abnormalities, Multiple / Q000175:diagnosis; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D004204:Joint Dislocations / Q000235:genetics*; D012729:Sex Chromosome Aberrations / Q000175:diagnosis*; D012783:Shoulder Dislocation / Q000235:genetics; D013577:Syndrome; D014960:X Chromosome