6 years-old respectively with dysmorphic face, ptosis, down- slanting palpebral fissures, hypertelorism, epicanthic folds, low-set ears, malar hypoplasia, micrognathia, high-arched
[idocslide.com]
Unlike other reported cases, our patient had hyperextensible joints, normal stature, and pectus excavatum.
[ncbi.nlm.nih.gov]
hyperextensibility and mild proximal weakness.
[pesquisa.bvsalud.org]