PMC166146_01
The patient has blepharophimosis, pursed lips, low-set ears, and stiffness of facial expression. Note the bowing of the tibiae, valgus deformities of the ankles, and pes planus. Also note the muscle hypertrophy and mild chest deformity.
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PMC166146_01_1471-2377-3-3-1.jpg
F1
His distinctive facial features included blepharophimosis, low set ears with folded helices, a fixed facial expression due to tonic contraction of the facial muscles, pursed lips caused by contraction of the perioral muscles, and micrognathia (figure 1).
Immunostaining of perlecan with domain-specific anti-perlecan antibodies in muscle tissues from patient and from an unaffected control subject. Staining in muscle tissue of patient is significantly reduced.
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PMC166146_01_1471-2377-3-3-2.jpg
F2
These mutations result in significant reduction in the production of the wild-type (normal) protein encoded by Perlecan (figure 2).