Crouzon syndrome (https://omim.org/entry/123500) is an autosomal dominant disorder characterized by craniosynostosis causing secondary alterations of the facial bones and facial structure. Common features include hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism (Reardon et al., 1994; Glaser et al., 2000).
Súvisiace produkty
-
LI FRAUMENI SYNDRÓM/HBOC
-
STICKLER SYNDRÓM
-
SPINÁLNA MUSKULÁRNA ATROFIA – SMA
-
XERODERMA PIGMENTOSUM