Cohen's Syndrome with Diabetes Mellitus

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Abstract
We report a case of 12‐year‐old girl with Cohen's syndrome (CS) associated with diabetes mellitus (DM). She had the characteristic facies, with a short philtrum, an open‐mouth appearance, prominent maxillary central incisors, high palate, mild maxillary hypoplasia and micrognathia. Other features included truncal obesity, short stature, mental deficiency, small hands and feet, and accentuated thoracic kyphosis. She had been hypotonic during the neonatal and early infantile periods. Laboratory examinations showed hyperglycemia and glucosuria. HbAl and HbA1 c levels were raised. A 75‐g oral glucose tolerance test (OGTT) showed glucose intolerance consistent with DM, but there was a normal level of urinary C‐peptide. There were no islet cell antibodies (ICAs) and no history of ketoacidosis. This is the first reported case of CS with non‐insulin‐dependent diabetes mellitus (NIDDM).