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Table 4 Recommended evaluations in MADB patients

From: Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines

Evaluation

First evaluation

Frequency

Blood glucose level; evaluation of diabetes mellitus

following initial diagnosis

annually

Blood pressure measurement; evaluation of renal failure

following initial diagnosis

annually

Urine protein and glucose levels; evaluation of renal failurea

following initial diagnosis

annually

Podiatric evaluation; treatment of wounds due to plantar atrophy and/or peripheral neuropathy in diabetes mellitus patients

following initial diagnosis

annually

Dental examination; extraction of primary teeth may be required to avoid crowding and development of two rows of teeth

around the age of 4 years

annually

Blood lipid profiles; abnormal levels requires treatment including exercise, diet modification, and medication as warranted

around the age of 20 years

annually

  1. a This can be monitored by dipstick urine analysis