Rare Diseases Symptoms Automatic Extraction

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 presenting "female patient" symptom

  • achondroplasia
  • adrenal incidentaloma
  • alexander disease
  • aniridia
  • aromatase deficiency
  • benign recurrent intrahepatic cholestasis
  • carcinoma of the gallbladder
  • coats disease
  • cohen syndrome
  • cowden syndrome
  • cushing syndrome
  • cutaneous mastocytosis
  • dedifferentiated liposarcoma
  • dentinogenesis imperfecta
  • epidermolysis bullosa simplex
  • esophageal squamous cell carcinoma
  • fabry disease
  • holt-oram syndrome
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • kallmann syndrome
  • kindler syndrome
  • krabbe disease
  • lamellar ichthyosis
  • liposarcoma
  • lymphangioleiomyomatosis
  • malignant atrophic papulosis
  • monosomy 21
  • neuralgic amyotrophy
  • oculocutaneous albinism
  • oligodontia
  • oral submucous fibrosis
  • papillon-lefèvre syndrome
  • pendred syndrome
  • primary hyperoxaluria type 1
  • proteus syndrome
  • pyomyositis
  • pyruvate dehydrogenase deficiency
  • sneddon syndrome
  • systemic capillary leak syndrome
  • thoracic outlet syndrome
  • triple a syndrome
  • von hippel-lindau disease
  • waldenström macroglobulinemia
  • x-linked adrenoleukodystrophy

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