PMC4264978_01
The patient was 5 year-old with obvious cone-shape teeth and scanty eyebrows.
40681_2014_27_Fig1_HTML.jpg
PMC4264978_01_40681_2014_27_Fig1_HTML.jpg
Fig1
He also had malformed teeth all with a cone-shaped aspect (Figure 1), but he received teeth replacements 10 years ago.
Frontal bossing, prominent supraorbital ridge, sunken cheeks, thick lips, low-set ears, scanty eyebrows and hypotrichosis with fine, sparse and brittle scalp hair but normal sexual hair (beard).
40681_2014_27_Fig2_HTML.jpg
PMC4264978_01_40681_2014_27_Fig2_HTML.jpg
Fig2
The clinical phenotype of the patient was characterized by frontal bossing, a prominent supraorbital ridge, sunken cheeks, thick lips, sparse hair, scanty eyebrows, and low-set and overfolding ears (Figure 2).
Fragile-appearing dry skin with reduced hair follicles
40681_2014_27_Fig3_HTML.jpg
PMC4264978_01_40681_2014_27_Fig3_HTML.jpg
Fig3
A physical examination showed hypotrichosis with fine, sparse and brittle scalp hair with excessive fragility (Figure 3).