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Oral and maxillofacial surgical considerations for a case of Hutchinson-Gilford progeria.

Hutchinson-Guilford progeria is a rare genetic condition showing the stigmata of accelerated ageing combined with severe growth retardation. Patients with this condition show a classical facies and clinical features with an average age of death of 13, usually due to atherosclerotic changes. Craniofacial and dental manifestations include mandibular and maxillary hypoplasia, both vertically and horizontally. Delayed and abnormal tooth eruption and morphology are commonly present. The long-term medical prognosis and eruption potential of individual teeth is important when considering treatment. In addition to this, surgical planning and surgical technique must be modified by the abnormal facial morphology, dermal inelasticity, potential anaesthetic difficulties, and ongoing deterioration in the medical condition. These factors mandate early and definitive intervention for oral surgical conditions. We report the case of a 13-year-old male treated for pericoronitis and oral pain relating to delayed eruption of first permanent molars.

Child↗

Early pulpal involvement in an unusual case of dens in dente. Case report.

Dens in dente (dens invaginatus, tooth within a tooth, dilated composite odontome) is an abnormal tooth form which occurs most frequently in the permanent maxillary lateral incisor region. Dens in dente may occur, however, in any tooth in the dental arch, although these other forms are comparatively rare. It may appear within both the coronal part of the tooth and the root, although coronal forms are more common. In this paper, a case of extreme dens in dente with pulpal involvement at an early stage of eruption is presented.

Child↗

Ultrastructural study of tooth enamel with amelogenesis imperfecta in AI-nephrocalcinosis syndrome.

This paper describes the ultrastructure of the affected enamel and the clinical features in two siblings with the syndrome of nephrocalcinosis and amelogenesis imperfecta. Nephrocalcinosis was diagnosed by intravenous pyelography, and confirmed by ultrasonography and CT scan. Amelogenesis imperfecta AI was diagnosed clinically and histologically. Light microscopy showed that the affected enamel surfaces were rough and the enamel was hypoplastic and mainly positively birefringent. Scanning electron microscopy revealed a rough and extensively cracked enamel surface covered with oval shaped blister-like protrusions. TEM showed porous enamel consisting of loosely packed and randomly oriented thin ribbon-like crystals with little or no prismatic structure. Observations showed that hypoplasia together with hypocalcification and/or hypomaturation defects were present in the same tooth, indicating the possibility of an abnormality in interstitial matrix, leading to dystrophic calcification in the kidney and abnormal tooth enamel formation, or alternatively an involvement of two separate but closely linked genes.

Adolescent↗

In vitro osteogenic differentiation is affected in Wiedemann-Rautenstrauch-Syndrome (WRS).

BACKGROUND: Wiedemann-Rautenstrauch (neonatal progeroid) syndrome (WRS) is a rare autosomal recessive condition, with the characteristic appearance of premature aging already present at birth and other typical features (hypotrichosis, macrocephaly, mental retardation, aged face, generalized lipoatrophy, abnormal tooth status, osteopenia and other skeletal abnormalities). To date, there are no data about the differentiation capacity of WRS progenitor cells available in the literature. PATIENTS AND METHODS: To elucidate the osteoblastic and chondroblastic regeneration potential in WRS, a progenitor cell culture system was used. Bone marrow-derived stem cells of a 16-year-old WRS patient were cultivated and stimulated by dexamethasone, ascorbic acid and beta-glycerolphosphate (DAG) over 21 days. Immunocytochemical stainings of CD34, CD45, CD105, osteocalcin, osteopontin and collagen II served for a quantitative evaluation of the differentiated cells. The results were compared to bone marrow-derived stem cells of a healthy female volunteer donor. RESULTS: It was shown, for the first time, that WRS cells showed a highly significant lower in vitro response to osteoblastic differentiation stimulus. Furthermore, significantly fewer chondrocytes and hematopoietic cells were induced in WRS progenitors compared to the control group. CONCLUSION: Our data suggest a lack of cellular differentiation capacity in WRS patients, which may be responsible for the clinical appearance and symptoms of this rare disorder.

Adolescent↗

Kabuki syndrome: a case report.

This article reports the case of an 8-year-old female with Kabuki syndrome and the oral/dental implications of this syndrome, namely hypodontia with interdental spacing, abnormal tooth morphology, malocclusion and a defect in the anterior midline of the palate. The oral findings will aid the clinician in diagnosing this syndrome, which was once thought to be seen exclusively in the Japanese population.

Abnormalities, Multiple↗

Endodontic treatment of a mature tooth with an abnormal clinical crown.

In this report, a case of a mature tooth with abnormal crown morphology, which created plaque retentive areas was presented. The pulp was necrosed due to the periodontal disease, and the anomaly was thought to be an aberration of a talon cusp. Therapy involved the reshaping and the endodontic treatment of tooth.

Child↗

In utero and lactational exposure to 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) affects tooth development in rhesus monkeys.

We thought to validate the current tolerable daily intake (TDI) value for dioxin (4 pg/kg) in Japan. Pregnant rhesus monkeys received an initial dose of 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD; 0, 30, or 300 ng/kg subcutaneously) on day 20 of gestation; the dams received additional injection of 5% of the initial dose every 30 days until day 90 after delivery. The teeth of stillborn, postnatally dead, and surviving offspring (now approximately 4 years old) were evaluated. None of the offspring in the 0 and 30 ng/kg groups (n=17 and 15, respectively) had tooth abnormalities, whereas 10 of 17 in the 300 ng/kg had them. These findings suggest the lowest-observed adverse-effect level (LOAEL) for TCDD in the rhesus monkey is between 30 and 300 ng/kg, and probably is close to that for rodents (86 ng/kg) on which the current TDI was based. It is reasonable to conclude that the current TDI needs no immediate modification.

Abnormalities, Drug-Induced↗

Further evidence for autosomal dominant inheritance and ectodermal abnormalities in Kabuki syndrome.

Most cases with Kabuki syndrome (KS) were reported sporadically. Recently, a few familial cases of KS were reported. This report provides further evidence that the KS is inherited as a dominant trait with variable expressivity. The proposita is an 18-month-old girl with facial findings characteristic of Kabuki syndrome, prominent fingertip-pads, a midsagittal cleft of vertebral body D4, hypotonia, and psychomotor retardation. Her mother had a similar facial appearance, prominent, cup-shaped ears, an abnormal dentition, early breast development, and low-normal intelligence. Because mother and daughter both had evident Kabuki syndrome, we conclude that KS in this family is inherited as a dominant trait. Further family history supports this finding. Microscopic examination of the hair of the proposita shows abnormalities consisting of trichorrhexis nodosa, twisting of the hairshafts, and irregularity of the diameter of the hair, as was described recently in a patient with KS. This could be another occasional finding in this syndrome, but further studies are required. The presence of abnormal hair, nails, and the commonly described tooth abnormalities in KS further suggest ectodermal involvement in this syndrome.

Abnormalities, Multiple↗

[Dens invaginatus].

There tooth abnormalities can be classified into four major groups, depending on the depth of the invagination. A typical example from group four is described. Thorough röntgenological examination reveals a frequent occurrence. The great diversity in nomenclature and the variety of morphogenetic and etiological theories show that genetic factors are very important in the development of an invaginated tooth and that knowledge concerning the pathomechanisms is very inadequate. A detailed inspection of the inner tooth morphology on röntgennogram is necessary as the surface morphology generally does not reveal the existence of an invagination. The irreversible pathological evolution occurring when diagnosis is neglected. Should incite the practitioner to look for invaginations on every set of röntgenograms. Five thereapeutic techniques are described. If an appropriate endodontic technique is applied, a successful root canal filling can be achieved.

Dens in Dente↗

Keratitis, ichthyosis, and deafness (KID) syndrome.

An 8-year-old boy with keratitis, ichthyosis, and deafness (KID) syndrome is reported. The patient has ichthyosis and deafness. Additional clinical features include hair and tooth abnormalities, as well as absence of the mammary glands. Although keratitis is an important element in the triad of KID syndrome, this patient has another ophthalmologic defect, a developmental anomaly of the lacrimal puncta, characterized by their complete absence. The case appears to be unique in the literature in that, to my knowledge, this particular ocular anomaly has not been described previously.

Child↗

Williams syndrome--oral presentation of 45 cases.

Forty-five patients with Williams syndrome (WS) were evaluated for oral abnormalities. The mean age of the patients was 9.25 years, the median age was 6.7 years, and the majority (62.2%) were male. Hypodontia was present in 11.1% of the patients. Abnormal tooth morphology was noted in 12.5% of the primary dentitions and 40.7% of the permanent dentitions. With the exception of the primary mandibular central incisors of males, all mesiodistal incisor crown dimensions were statistically significantly smaller when compared with norms (P < 0.05). At least one hypoplastic enamel defect was present in 9.4% of patients with primary teeth and in 18.5% with permanent teeth. No patients exhibited generalized enamel hypoplasia. More than half of the patients (59.1%) were both caries and restoration free, while only 13.6% presented with clinically active caries. Tongue thrusting was present in 67.7% of the sample, while more than 50% of the patients present with excessive interdental spacing. Patients exhibited a higher than normal prevalence of Class II and III occlusions, open and deep bites and anterior crossbites. No single dental finding was pathognomonic of WS, however two constellations of findings, each occurring in approximately one-third of the sample, were observed: 1) microdontia, anterior crossbite, tongue thrusting, and excessive interdental spacing, and 2) microdontia, deep or open bite, and excessive interdental spacing.

Abnormalities, Multiple↗

Endodontic treatment of a supernumerary tooth fused to a mandibular second molar: a case report.

Since abnormal tooth morphology can predispose to caries and periodontal disease, careful management of fused teeth is essential. In this paper we report a rare case of a fused molar and supernumerary tooth and describe its management. Caries was removed from the tooth complex under local anesthesia. The pulp chamber of the supernumerary tooth was exposed without involvement of second molar pulp chamber. The root canal of the supernumerary tooth was prepared using the step back technique and copious irrigation with 2.6% sodium hypochlorite. Obturation using the lateral condensation technique with gutta-percha and AH26 sealer was subsequently performed and final restoration was accomplished with composite resin. Nine months after the treatment, no clinical or radiographic concern is apparent, and the second molar tooth has remained vital.

Adult↗