[Stickler syndrome: maxillo-facial abnormalities].
A case of Stickler syndrome (hereditary arthro-ophthalmo-dystrophy) with maxillo-facial abnormalities and colon atresia is reported. The authors emphasize that in Stickler syndrome, (a chondrodystrophy with congenital alteration of type II collagen) the maxillofacial abnormalities are consecutive to prosencephalic neural crests dysneurulation, which caused mesethmoidal dysneurulation (and consequently of frontonasal-premaxillary structures); eye and colon abnormalities are consecutive to rhombo-mesencephalic neural crests dysneurulation. The Authors hypothesize that genic mutation, responsible of enzymatic deficiency of the neural crest multipotent cells, caused a morphogenetic alteration of the fronto-naso-philtral structures of the midface and of low face structures.
Berio
A
A
DIPE, Cattedra di Pediatria, Università degli Studi di Genova.
Giorgetti
R
R
Mascagni
E
E
Piazzi
A
A
D005260:Female; D006801:Humans; D007223:Infant; D019767:Maxillofacial Abnormalities / Q000000981:diagnostic imaging; D011859:Radiography; D013577:Syndrome