Cases reported "Hypophosphatasia"

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1/5. coffin-lowry syndrome and premature tooth loss: a case report.

    coffin-lowry syndrome was first described by Coffin in 1966 and later by Lowry in 1971. Several oral manifestations have been described previously. We report a case with additional information on the histology of prematurely exfoliated teeth.
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2/5. cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia.

    cleidocranial dysplasia (CCD; MIM 119600) is an autosomal dominant skeletal dysplasia characterised by hypoplastic clavicles, patent fontanelles, short stature, tooth anomalies and other variable skeletal changes. Different mutations of the RUNX2/CBFA1 gene (MIM 600211) have been detected in patients with CCD. We investigated a mother and daughter with features of CCD presenting with reduced plasma alkaline phosphatase activity, increased urinary phosphoethanolamine excretion and decreased bone density. The latter findings were suggestive of hypophophatasia but mutation analysis showed no mutation in the tissue-nonspecific alkaline phosphatase gene (TNSALP; MIM 171760). However, a heterozygous mutation (Arg169Pro caused by nucleotide change 506G > C) was detected in the RUNX2 gene. Metabolic alterations gradually improved in both mother and daughter but bone-specific alkaline phosphatase remained low (less than 30% of normal) and mild phosphoethanolaminuria persisted. Recent studies in the Cbfa1 knock-out mouse showed decreased expression of alkaline phosphatase in differentiating bone. CONCLUSION: we suggest that the observed metabolic alterations are secondary to the RUNX2 gene mutation affecting early bone maturation and turnover. This is the first description of biochemical findings of hypophosphatasia in patients with cleidocranial dysplasia.
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3/5. Dental aspects of hypophosphatasia: a case report, family study, and literature review.

    The classic oral features of hypophosphatasia, namely, premature tooth loss and large pulp spaces, were found in a young adult woman with bone and joint pains. A study of 22 family members revealed several with dental abnormalities such as abnormal enamel, dentin, or cementum formation, decreased mandibular bone density, and abnormally large pulp spaces. Only the propositus' sister fulfilled the biochemical criteria for hypophosphatasia. Biochemical examination of an extracted tooth from this sister showed phosphate and alkaline phosphatase values that were 7 to 10 times lower than normal and reduced concentrations of the essential cofactors Zn and Co . The spectrum of dental abnormalities is reviewed. This family study reveals that enamel hypoplasia, increased pulp spaces, and premature tooth loss are present not only in the deciduous but also in the permanent dentition. These findings should draw the dentist's attention to this condition.
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4/5. Cranial manifestations of hypophosphatasia in childhood nephrotic syndrome.

    A 7-year-old boy was referred to the children's hospital because of gross oedema and tiredness. Massive proteinuria was found and the condition was diagnosed as a childhood nephrotic syndrome. Concomitantly, pathologically low levels of serum alkaline phosphatase were recorded, and this, together with generalized osteoporosis and premature synostosis of cranial sutures, led to a second diagnosis: hypophosphatasia. The patient's family history further confirmed this condition of a heritable defect of metabolism. Dental inspection revealed very carious teeth with characteristically enlarged pulp chambers in molars. Histological examination of an extracted tooth revealed an unusually wide zone of predentine with some other dentinal irregularities. No cement layer was found. The skeletal age and exfoliation of primary teeth, however, were normal, unlike most reported cases of hypophosphatasia. The patient's renal disease was treated mainly with corticosteroids. There is no treatment for hypophosphatasia.
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5/5. Palatal expansion with a total denture.

    A case report of a pediatric patient who had posterior crossbite is presented. She was diagnosed with hypophosphatasia and had primary tooth loss. A total denture was constructed for aesthetics and function. For the correction of posterior cross bite, a palatal screw was placed in the upper denture. The upper archs successfully expanded to a proper relationship.
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