Unusual oral findings in dermatosparaxis (Ehlers-Danlos syndrome type VIIC).
A 13-year-old patient with dermatosparaxis (Ehlers-Danlos syndrome type VIIC), an autosomal recessive disorder of procollagen-I-N-proteinase, is presented. The oral findings comprise micrognathia, hypodontia, localized microdontia, opalescent tooth discoloration, root dysplasia, pulp obliteration, severe gingival hyperplasia, frontal open bite, and severe restriction of TMJ mobility. The reported anomalies suggest the need for expanding the present phenotypic spectrum. This is the first report on oral findings in the syndrome.
De Coster
P J
PJ
Department of Paediatric Dentistry, Centre for Special Care, Paecomed Research, Ghent University, Belgium. luc.martens@rug.ac.be
Malfait
F
F
Martens
L C
LC
De Paepe
A
A
D000293:Adolescent; D004535:Ehlers-Danlos Syndrome / Q000473:pathology*; D005260:Female; D006801:Humans; D007569:Jaw Abnormalities / Q000473:pathology; D009056:Mouth Abnormalities / Q000473:pathology*; D013705:Temporomandibular Joint Disorders / Q000473:pathology; D014071:Tooth Abnormalities / Q000473:pathology*