PMC4115490_01
Patient at the age of 7 years. A) B) Note broad and sparse eyebrows, convergent strabismus, broad nasal bridge and hypertelorism,nose with broad columella and nares, ears with prominent helix and antihelix and large lobes, long philtrum, thin upper lip, short neck, low set posterior hairline; C) D) Pectus excavatum; E) F) Short fingers and nails, broad thumbs; G) H) Short toes and nails, broad big toes and flat feet.
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PMC4115490_01_1755-8166-7-49-1.jpg
F1
Skeletal evaluation showed pectus excavatum, short fingers and toes, broad thumbs and big toes, short nails, joint hyperlaxity of lower limbs, and flat feet (Figure  1).
Chest CT scan before thoracic surgery. A) B) severe pectus excavatum with a Haller index of 4.07, bronchiectases and ground glass opacities C) area of consolidation and air trapping.
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PMC4115490_01_1755-8166-7-49-2.jpg
F2
Since these features were associated with focal epilepsy, initially poorly responsive to conventional drugs, brain MRI was performed at the age of four years, showing mild symmetrical enlargement of supratentorial ventricular cavities and enlargement of fronto-insular periencephalic spaces (Figure  2).