Laurence-Moon-Bardet-Biedl syndrome.
Laurence-Moon-Bardet-Biedl syndrome is a rare, genetically heterogeneous, autosomal recessive inherited disorder with wide variability in expression. We report a case of Laurence-Moon-Bardet-Biedl syndrome with typical phenotype in conjunction with nonalcoholic steatohepatitis. The diagnosis had been missed until the patient presented at our hospital.
Sahu
J K
JK
Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Jain
V
V
D020788:Bardet-Biedl Syndrome / Q000150:complications / Q000175:diagnosis* / Q000628:therapy; D002648:Child; D003937:Diagnosis, Differential; D050528:Diet, Carbohydrate-Restricted / Q000379:methods; D005081:Exercise Therapy / Q000379:methods; D005234:Fatty Liver / Q000175:diagnosis / Q000209:etiology / Q000628:therapy; D005500:Follow-Up Studies; D006801:Humans; D008297:Male