Dental findings in three siblings with Morquio's syndrome

Int J Paediatr Dent. 1999 Sep;9(3):219-24. doi: 10.1046/j.1365-263x.1999.00127.x.

Abstract

Three siblings with Morquo's syndrome are described. Cultured fibroblasts from the youngest sibling demonstrated a total absence of N-acethylgalactosamine-6-sulphate-sulphatase whereas beta-galactocidase activity was normal, thus verifying the diagnosis of MPS-IV A. Dental features such as pointed cusps, spade-shaped incisors, thin enamel and pitted buccal surfaces were observed in all three children. Furthermore, in all three siblings the TMJ was affected with severe resorption of the head of the condyle. Histological examination of exfoliated primary molars showed a band of increased porosity following the striae of Retzius in the outer part of the enamel. These developmental disturbances were occasionally associated with minor localized defects in the enamel surface. The importance of close monitoring of dental development and regular dental care in order to prevent attrition of the teeth, loss of vertical face height and subsequent risk of TMJ dysfunction is emphasized.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Chondroitinsulfatases / deficiency*
  • DMF Index
  • Dental Caries / complications
  • Facies
  • Family Health
  • Female
  • Humans
  • Male
  • Mandibular Condyle / pathology
  • Mucopolysaccharidosis IV / classification
  • Mucopolysaccharidosis IV / complications*
  • Mucopolysaccharidosis IV / enzymology
  • Mucopolysaccharidosis IV / pathology*
  • Temporomandibular Joint Disorders / etiology*
  • Tooth Abnormalities / etiology*

Substances

  • Chondroitinsulfatases
  • GALNS protein, human