?url_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Adc&rft.title=Berardinelli-Seip+Syndrome&rft.creator=Dal%2C+Sameer+I&rft.creator=Patel%2C+Hitesh&rft.subject=Online+Journal+of+Health+and+Allied+Sciences&rft.description=We+have+reported+two+cases+of+Berardinelli-syndrome+in+a+family+which+is+a+rare+autosomal+recessive+disorder+of+the+adipose+tissue%2C+originally+described+by+Berardinelli+and+Seip%2C+has+been+reported+in+approximately+120+patients+of+various+ethnic+origins.+Assuming+that+only+1+in+4+patients+is+reported.Patients+present+with+acanthosis+nigricans+(dark+velvety+pigmentation+of+the+skin)+in+the+axilla%2C+neck+or+groin%2C+severe+insulin+resistance%2C+high+levels+of+serum+insulin+and+serum+triglycerides.The+other+clinical+features+consist+of+enlarged+hands%2C+feet+and+prominent+mandible+(acromegaloid+features)%2C+increased+sweating%2C+umbilical+hernia+and+lytic+lesions+(bone+appear+to+be+eaten-up+on+X-rays)+in+long+bones+of+the+upper+and+lower+extremities+(arms%2C+forearm%2C+hands%2C+thigh%2C+calf%2C+legs+and+feet)+such+as+humerus%2C+femur%2C+etc.+Hepatomegaly+from+fatty+liver+is+almost+universal+and+may+ultimately+lead+to+cirrhosis.+Splenomegaly+is+common.+Nearly+all+patients+have+a+prominent+umbilicus+or+frank+umbilical+hernia.+Females+present+with+enlarged+clitoris%2C+increased+body+hair%2C+absence+of+or+irregular+menstrual+cycles%2C+and+polycystic+ovaries+(enlarged+ovaries).+Only+a+few+affected+women+have+had+successful+pregnancies%2C+whereas+affected+men+have+normal+fertility&rft.publisher=BS+Kakkilaya&rft.contributor=Kakkilaya%2C+Dr+Srinivas&rft.date=2011-01-20&rft.type=Journal+(On-line%2FUnpaginated)&rft.type=PeerReviewed&rft.format=application%2Fpdf&rft.identifier=http%3A%2F%2Fcogprints.org%2F7275%2F1%2F2010-4-28.pdf&rft.identifier=++Dal%2C+Sameer+I+and+Patel%2C+Hitesh++(2011)+Berardinelli-Seip+Syndrome.++%5BJournal+(On-line%2FUnpaginated)%5D+++++&rft.relation=http%3A%2F%2Fcogprints.org%2F7275%2F