Rabson-Mendenhall syndrome.
Rabson-Mendenhall syndrome is characterized by growth retardation, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, premature and dysplastic dentition, coarse facial features, paradoxical fasting hypoglycemia and post-prandial hyperglycemia, extreme hyperinsulinemia and pineal hyperplasia. We describe a six-month-old female child with physical features suggestive of the Rabson-Mendenhall syndrome. The child also had medullary nephrocalcinosis.
Kumar
Sarita
S
The Genetics Division, Department of Pediatrics, Seth G. S. Medical College and KEM Hospital, Parel, Mumbai 400 012, India.
Tullu
Milind S
MS
Muranjan
Mamta N
MN
Kamat
Jaishree R
JR
D000015:Abnormalities, Multiple / Q000235:genetics*; D000052:Acanthosis Nigricans / Q000235:genetics; D003241:Consanguinity; D003920:Diabetes Mellitus / Q000097:blood / Q000235:genetics; D016883:Diabetic Ketoacidosis / Q000235:genetics; D005183:Failure to Thrive; D005260:Female; D006130:Growth Disorders / Q000235:genetics*; D006628:Hirsutism / Q000235:genetics*; D006801:Humans; D007223:Infant; D007333:Insulin Resistance / Q000235:genetics; D018126:Odontodysplasia / Q000235:genetics; D013577:Syndrome