| Main clinical features
|
macrocephaly, downward-slanting palpebral fissures, puffy eyelids , mild ichthyosis, sagging cheeks, everted lower lip, retrognathia with abnormal skull morphology , gingival hyperplasia, abnormal position of the teeth, severe hyperlaxity, and flat feet
scalp hair sparse with short stature caused mainly by moderate to severe scoliosis
electron microscopy of dermal elastic fibers demonstrated diminished microfibrillar component at the periphery of elastic fibers (Basel-Vanagaite 2009) |