PMC10281053_01
The patient at 1 year of age, showing a generalized lipodystrophic phenotype.
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f1
He was described as having a triangular face with prominent forehead, antimongoloid palpebral fissures and hollow cheeks ( Figure 1 ).
The patient at 16 years of age, at first evaluation at our Unit. Notable generalized lipodystrophy with upper limb phlebomegaly.
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f2
At our first physical evaluation, the patient presented a severe and generalized lack of SAT; phlebomegaly was also evident, particularly on the upper limbs ( Figure 2 ).
PMC10281053_02