Absence of adult dental anomalies in familial hypophosphatasia

This paper is a supplemental report on 3 previous publications about a family in which 3 male children manifested gingival recession, alveolar bone resorption and premature exfoliation of their deciduous teeth without apical root resorption and without clinical signs of inflammation. Laboratory bloo...

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Veröffentlicht in:Journal of periodontal research 1997-05, Vol.32 (4), p.375-380
Hauptverfasser: Lepe, X., Roth well, B. R., Banich, S., Page, R. C.
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container_end_page 380
container_issue 4
container_start_page 375
container_title Journal of periodontal research
container_volume 32
creator Lepe, X.
Roth well, B. R.
Banich, S.
Page, R. C.
description This paper is a supplemental report on 3 previous publications about a family in which 3 male children manifested gingival recession, alveolar bone resorption and premature exfoliation of their deciduous teeth without apical root resorption and without clinical signs of inflammation. Laboratory blood and urine studies in conjunction with an analysis of periodontal microflora and family pedigrees established a diagnosis of hypophosphatasia in these 3 children, as well as their father, the paternal grandmother and paternal great‐uncle. Clinical data also revealed that a son of the paternal great‐uncle and his daughter were similarly affected. The family pedigree is consistent with an autosomal dominant mode of transmission. The 3 brothers are now between the ages of 18 and 22 yr and all have complete permanent dentitions. Aside from some periodontal manifestations of prior dentoalveolar trauma, most of the findings of the periodontal assessment are within normal limits. All 3 exhibit moderate to severe caries and some degree of gingival inflammation, but minimal periodontal pathosis.
doi_str_mv 10.1111/j.1600-0765.1997.tb00547.x
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subjects Adolescent
Adult
Biological and medical sciences
Dentistry
Dentition, Permanent
Errors of metabolism
exfoliation
Follow-Up Studies
hereditary
Humans
hypophosphatasia
Hypophosphatasia - complications
Hypophosphatasia - physiopathology
hypoplastic
Male
Medical sciences
Metabolic diseases
Miscellaneous hereditary metabolic disorders
Periodontal Diseases - etiology
Periodontal Index
Tooth Injuries - complications
title Absence of adult dental anomalies in familial hypophosphatasia
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