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Amelogenesis imperfecta among Israeli Jews and the description of a new type of local hypoplastic autosomal recessive amelogenesis imperfecta.

Amelogenesis imperfecta (AI) was detected in nine of 70,359 school children surveyed, a prevalence approximating 1:8,000. Of these cases, eight were the hypoplastic type and one the snow-capped hypomaturation type. Family studies demonstrated that hypoplastic AI was an autosomal dominant trait in two children and an autosomal recessive in six. Of three additional families referred to our clinic, two had autosomal recessive hypoplastic AI and one the hypocalcified type, inherited as an autosomal dominant trait. In four families, a new type of local hypoplastic autosomal recessive AI was observed, characterized by horizontal pitting and grooving more pronounced in the middle third of the crowns of most teeth in both dentitions.

Adolescent

Ultrastructural study of amelogenesis imperfecta.

An ultrastructural study of teeth with amelogenesis imperfecta revealed various aspects of microcavities in the enamel surface, which ranged from isolated imprints of ameloblasts corresponding to the mildest lesions at the end of amelogenesis, to pits caused by the death of 20 to 30 ameloblasts at the beginning of amelogenesis. Abnormalities in the shape of the prisms can be observed. Further, crystals are distributed randomly within a prism or at the junction of 2 contiguous prisms while intercrystalline spaces are widened, indicating in various places the lack of a preferred orientation of the crystals. In amelogenesis imperfecta, two different crystalline periods are found: 1 of about 250 A, the other of about 500 A and over. The fact that amorphous areas are found among the crystals of enamel may be related to different stages of crystallization. However, it was not possible to find any lattice defect.

Ameloblasts

[A familial strain of amelogenesis imperfecta hypoplastic type with dominant x-linked heredity].

Hypoplastic amelogenesis imperfecta in members of four generations of a Campanian family is described. The females were affected to a lesser degree. A dominant X-linked mutation was apparently involved. The different forms of amelogenesis imperfecta are described in the light of their anatomical, clinical and radiological pictures and their transmission modalities. Suitable corrective treatment is required to offset the damage to masticatory function, and associated psychological and emotional consequences, especially in female subjects.

Adult

Amelogenesis imperfecta with taurodontism.

Reports of families having a combination of amelogenesis imperfecta and taurodontism are limited. This study of members of three families shows that the combination is inherited as an autosomal dominant trait. In each of the patients examined, neither condition was seen without the other. The enamel was rough and dysplastic and varied in color from white to yellow. Radiographically, taurodontism was present in the deciduous and permanent dentitions. The pulp chambers of the incisor teeth were larger than is usually seen at all ages. All patients had normal-appearing hair, fingernails, and bones. The distinction between amelogenesis imperfecta with taurodontism and the tricho-dento-osseous syndrome is discussed.

Amelogenesis Imperfecta

[Amelogenesis imperfecta--structural, ultrastructural and radiocrystallographic study].

Teeth with amelogenesis imperfecta were obtained from three members of the same family, and studied through convergent technics of investigation: classical histology, scanning electron microscopy, high resolution electron microscopy, and crystallographic analysis. The results were compared with theoretical computer calculations. Enamel abnormalities related to the shape and irregular distribution of the crystals. Some needle-shaped crystals were found together with large ones, roughly rectangular. 42% of the crystals were distorted. Widened interplanar spacings were evidence of an hypomineralization. However, the interplanar spacings observed in high resolution electron microscopy, as well as the crystalline degree of the crystals, studied through classical crystallographic methods, revealed an apparently sound hydroxyapatite

Amelogenesis Imperfecta

Alopecia totalis, nail dysplasia and amelogenesis imperfecta.

A patient with Turner XO/XX mosaicism is presented who also exhibits alopecia totalis, nail dysplasia and amelogenesis imperfecta. This combination has not been previously reported. What relationship the clinical manifestations have to the chromosome status is also unknown.

Adult

Amelogenesis imperfecta: local hypoplastic type with pulpal calcification.

A case report of a patient with local hypoplastic type of amelogenesis imperfecta is presented. Developmentally absent canines and unerupted teeth in the anterior maxilla and calcifications in the apical third of the pulp chambers of the molars were noticed and discussed. A family history was analyzed as consistent with an autosomal dominant form of transmission of the disorder.

Adult