Dental and maxillofacial alterations in patients affected from odontochondrodysplasia: a rare case report and review of literature.

[dentinogenesis imperfecta]

This paper has evaluated the dental and or facial disorders associated to Goldblatt syndrome , also known as odontochondrodysplasia .We report the analysis performed on a female young patient affected by this disease . We analyzed her dental and or facial features .We adopted several diagnostic criteria : firstly , we performed radiographic investigations , followed by rhinomanometric measurements and by clinical analysis performed in order to determine the salivary flow in this typology of patients . The evidences obtained after a careful clinical , anamnestic , and radiographic analysis of our female patient allowed us to identify a number of odontostomatologic features , which are very likely to be related to this syndrome . Our patient showed some pathognomonic signs of odontochondrodysplasia already identified in the literature , that is , pectus carinatum , joint hyperextensibility , coxa valga and genu valgum , upper and lower limb asymmetry , and vertebral abnormalities . Moreover , we focused our attention on those odontostomatologic aspects that had never been analyzed by other reports in the literature : dentinogenesis imperfecta , ligamentous hyperlaxity of all joints and of temporomandibular joints in particular , poor lip competence , ogival palate , and oral respiration . Besides these , dental crowding and other important elements were identified through cephalometric measurements .In the light of all these elements and of their comparison with the existing literature , it is possible to stereotype a few recurrent odontostomatologic and systemic-generalized features in patients with odontochondrodysplasia , which can be considered as closely associated with this syndrome .

Diseases
Validation

Diseases presenting "coxa valga" symptom

dentinogenesis imperfecta

pyruvate dehydrogenase deficiency

This symptom has already been validated