Dental arch dimensions in subjects with beta-thalassemia major.

AIM: Thalassemia is a group of inherited hemoglobinopathies with thalassemia major representing the severe form of the disease characterized by craniofacial deformities. The aim of this study is to provide a detailed description of dental arch dimensions in subjects with thalassemia major. SUBJECTS AND METHODS: The sample consisted of 43 thalassemic subjects, 24 males and 19 females, aged 7.3 to 15.4 years (mean ± SD = 10.6 ± 3.5 years) and control group matched by age and sex. Dental casts of the participants were measured for arch lengths, arch widths, using a digital sliding caliper. Student t-test was used for comparison of mean values between males and females as well as between thalassemic and control groups. RESULTS: The results show that all means of maxillary and mandibular arch dimensions in thalassemic males and females were smaller than their controls, with 14 of the 16 comparisons being statistically significant (ranged from p < 0.05 to p < 0.001).The segmental arch lengths in the maxilla and mandible of thalassemic group were reduced by an average of 2.59 and 2.55 mm respectively, compared with the control group. The mean maxillary and mandibular arch depths (lengths) in the thalassemic group were shorter by 3.21 and 2.63 mm respectively, relative to the controls (p < 0.001). All arch widths thalassemic patients were significantly reduced by an average ranged from 1.33 to 1.90 mm in the maxilla and 1.37 to 1.77 mm in the mandible. CONCLUSION: The present study showed that the maxillary and mandibular dental arches dimensions are significantly reduced in patients with thalassemia major compared with healthy control subjects. CLINICAL SIGNIFICANCE: Changes in the size of dental arches and tooth dimensions in thalassemic patients have an impact on the occlusal relationships.These changes should be taken into account when planning orthodontic treatment and orthognathic surgery.

Characteristics, clinical features and treatment of supernumerary teeth.

AIMS: To determine the characteristics, clinical features and treatment of supernumerary teeth in a general district hospital in the North of Jordan. DESIGN: This retrospective study was conducted at Prince Rashid Al-Hassan Hospital in Irbid. The medical records of 139 patients who were diagnosed to have supernumerary teeth during the period April 1993 - June 2007 were reviewed. Clinical data on the location, number eruption status, stages of development, and the types of supernumerary teeth were recorded, along with information on demographics, treatment, associated systemic syndromes, effects on adjacent teeth, and treatment. RESULTS: The male to female ratio was 2.2:1. Of the 186 supernumerary teeth investigated (65.0%) were conical, (23.7%) supplemental, (10.8%) tuberculate and (0.5%) odontoma. Two-thirds of the supernumeraries were erupted. Of this sample (21.6%) patients had multiple supernumerary teeth. The most frequent location was at the premaxilla level. The most common effect on adjacent teeth was delayed eruption (23.1%). Simple and surgical extractions of supernumerary teeth were done for (81.7%) of the cases and orthodontic treatment was needed in (74.1%) of patients. CONCLUSION: Supernumerary teeth are an uncommon dental entity. An early diagnosis prevents or reduces the risk of complications and when combined with an earlier removal has a better prognosis.

Combined cutaneous findings with segmental odontomaxillary dysplasia: Review of the literature and proposal of a new clinical classification.

Segmental odontomaxillary dysplasia is characterized by variability of its clinical and radiological features, and may mimic other fibro-osseous lesions. We describe the case of a segmental odontomaxillary dysplasia in a 12-year-old male comprising of dermal, gingival, bony, and dental abnormalities. He presented with left midfacial diffuse hyperkeratotic erythematous lesion, ipsilateral hypopigmentation of upper lip with indistinct vermilion border, left-sided facial swelling, unilateral maxillary enlargement and ipsilateral failure of eruption of permanent teeth. Radiographic imaging showed abnormal bony trabeculation, impacted and missing teeth. Histopathologic findings showed characteristic features of segmental odontomaxillary dysplasia. We herein report a case of this rare unusual anomaly, review the literature, and propose a new clinical classification based on the limited number of previously reported cases in an attempt to categorize the clinical variants of the condition which might be helpful when treatment options are to be considered. Clinicians should be aware of its presence when encountering patients presenting with a facial cutaneous lesion especially when it is associated with facial asymmetry and unresponsive to treatment.

Multiple developmental dental anomalies and hypermobility type Ehlers-Danlos syndrome.

Concurrent existence of multiple developmental dental anomalies: hypodontia of permanent mandibular incisors, dentin dysplasia, transmigration, root dilaceration, ectopic eruption and delayed eruption combined with systemic abnormalities including joint hyperlaxity and skin hyperextensibility aided in diagnosis of a sporadic case of hypermobility type of Ehlers-Danlos syndrome in a Jordanian Arab male. In dental practice the presence of multiple developmental dental anomalies expressing simultaneous defects in different stages of tooth development should raise suspicion of possible of manifestation of an underlying systemic abnormality.

Phenotypic diversity and revision of the nomenclature for autosomal recessive amelogenesis imperfecta.

PURPOSE: The purpose of this study was to characterize the phenotype in 9 families with autosomal recessive amelogenesis imperfecta (ARAI), and to propose a classification system allowing inclusion and delineation of diverse ARAI phenotypes. STUDY DESIGN: Nine families with ARAI were evaluated clinically and radiographically. Exfoliated and extracted teeth were examined via light and scanning electron microscopy, with the enamel in one case evaluated by amino acid analysis. RESULTS: The 9 families demonstrated diverse ARAI phenotypes including localized hypoplastic, generalized thin hypoplastic, hypocalcified and hypomaturation AI types. CONCLUSIONS: Some ARAI phenotypes observed in this study and reported in the literature cannot be classified using currently accepted ARAI nomenclature. Therefore, we propose a revised nomenclature permitting both classification of all ARAI clinical forms and inclusion of anticipated molecular-based nomenclature, such as now exists for some X-linked and autosomal dominant AI subtypes.

Demonstration of altered splicing with the IVS3-1G --> a mutation of cathepsin C.

Papillon-Lefèvre syndrome is an autosomal recessive palmoplantar keratoderma caused by cathepsin C gene mutations. We present the second family segregating the IVS3-1G --> A mutation and demonstrate for the first time that altered splicing and decreased enzymatic activity occur. RNA analysis revealed two species in carriers, corresponding to wild-type and mutant transcripts, and only the mutant transcript in affected individuals. Sequencing of the mutant transcript revealed that it lacked exon 3, resulting in a frameshift and introduction of a premature termination codon.