Type I Dentin Dysplasia: The Literature Review and Case Report of a Family Affected by Misrecognition and Late Diagnosis.

Background and Objectives: Type I dentin dysplasia (DD-I) is a rare genetic disorder with autosomal dominant or recessive inheritance at risk of late or long-misunderstood diagnosis because the teeth, compared to other degenerative dentin diseases, do not have coronal defects and/or alterations but only at the root level (absent, conical, pointed roots, and obliterated pulp canals). The first radiographic suspicion often occurs only in case of sudden mobility and/or abscesses of the permanent teeth. Genetic tests confirm the diagnosis. Case Presentation: This case report describes the oral and radiographic characteristics of two siblings, 12 and 10 years old, a male and a female, at an early age affected by DD-I, whose diagnosis was made for a first orthodontic visit. The father and the older child had already undergone dental and orthodontic treatments, respectively, without the disease being suspected by the dentist. Results: Genetic tests support the diagnosis of DD-I. Following the diagnosis, the patients began a process of close periodic checks every 3-4 months to monitor their situation. The male child lost upper lateral incisors, which were then replaced with a light nylon removable prosthesis. Conclusions: The ability to recognize the radiographic features characteristic of DD-I is very important to avoid prejudicial diagnostic delays and to be able to plan the long-term treatment of these patients better, especially when the pathology was primarily misrecognized in the family.

Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation.

PCNT encodes a large coiled- protein localizing to pericentriolar material and is associated with microcephalic osteodysplastic primordial dwarfism type II syndrome (MOPD II). We report our experience of nine new patients from seven unrelated consanguineous Egyptian families with the distinctive clinical features of MOPD II in whom a customized NGS panel showed homozygous truncating variants of PCNT. The NGS panel results were validated thereafter using Sanger sequencing revealing three previously reported and three novel PCNT pathogenic variants. The core phenotype appeared homogeneous to what had been reported before although patients differed in the severity showing inter and intra familial variability. The orodental pattern showed atrophic alveolar ridge (five patients), rootless tooth (four patients), tooth agenesis (three patients), and malformed tooth (three patients). In addition, mesiodens was a novel finding found in one patient. The novel c.9394-1G>T variant was found in two sibs who had tooth agenesis. CNS anomalies with possible vascular sequelae were documented in two male patients (22.2%). Simplified gyral pattern with poor development of the frontal horns of lateral ventricles was seen in four patients and mild thinning of the corpus callosum in two patients. Unilateral coronal craniosynstosis was noted in one patient and thick but short corpus callosum was an unusual finding noted in another. The later has not been reported before. Our results refine the clinical, neuroradiological, and orodental features and expand the molecular spectrum of MOPD II.

A Novel Approach to the Management of Dentin Dysplasia Using Zygoma Implants: A Case Report.

Dentin dysplasia (DD) is a rare clinical entity that can affect deciduous dentition alone, or both deciduous and permanent dentition. It is a developmental disorder that can be classified as DD type I or type II. This case report describes a rare case of DD type I in a 19-year-old patient, highlighting the clinical presentation and the radiographic features of the condition, confirmed by ground sectioning and microscopic examination of extracted teeth. The case report also describes the management of this patient using zygoma and endosteal implants.

Endodontic treatment of dentin dysplasia type I D.

Dentin dysplasia (DD) Type I is a developmental condition affecting dentin, inherited in an autosomal-dominant pattern or occurring due to a new mutation. Whilst the crowns of DD Type I affected teeth appear clinically normal, the roots are blunt and shortened. Pulp necrosis and periapical pathoses may be seen in the absence of obvious causes. Pulp stones and calcifications are frequently encountered. Endodontic management of DD may be challenging. A case of DD Type I, sub-classification d, in which spontaneous irreversible pulpitis developed on three mandibular incisors is documented. The case was managed by conventional endodontic treatment. Knowledge of this uncommon dental condition may assist dentists to adequately diagnose and manage these cases. Extraction should not be considered the first-line treatment option when sufficient root length is available to attempt endodontic treatment. Referral for medical evaluation is recommended to rule out systemic diseases which may mimic this condition.

Dentin dysplasia Type I: A rare case report.

Dentin dysplasia (DD) is an uncommon developmental disturbance affecting dentin, resulting in enamel with atypical dentin formation and abnormal pulpal morphology. Type I (radicular) and Type II (coronal) are the two types of DD. Type I is more common, and both types include single or multiple teeth in primary and permanent dentition. Combinations of both types have also been described in literature. Four distinct forms of Type I and one form of Type II were identified. This case report documents one such rarity of DD in an 11-year-old female with clinical and radiographical findings and management aspects.

Dentin dysplasia type I - A rare entity.

Dentin dysplasia is a rare disturbance of dentin formation characterized by normal enamel but atypical dentin formation with abnormal pupal morphology. The teeth appear clinically normal in morphologic appearance and color. The teeth characteristically exhibit extreme mobility and are commonly exfoliated prematurely. Radiograph shows obliteration of all pulp chambers, short, blunted and malformed or absent roots with periapical radiolucencies involving apparently intact tooth. This case is reported here because of its rarity along with the description of various clinical, radiological and histological features.

A Case of Dentin Dysplasia with Full Mouth Rehabilitation: A 3-year Longitudinal Study.

Dentin dysplasia, a rare hereditary disorder of dentin formation, is characterized by normal enamel but atypical dentin formation along with abnormal pulpal morphology. It is inherited as an autosomal dominant trait. It has been divided into two clinical entities: type I (radicular) and type II (coronal). Early diagnosis and initiation of effective regular dental treatments may help the patients with this condition to delay or prevent the loss of the entire dentition and help them in cope up with edentulous state in early ages. The condition undoubtedly has a negative impact on the physical and psychological well-being of the affected individual. Numerous factors have to be considered during the prosthetic rehabilitation of patients with dentin dysplasia. Treatment protocol varies according to clinical case. Although literature reports suggest general guidelines for treatment planning, the present case report describes a full mouth rehabilitation of an 8-year-old female patient with dentin dysplasia. How to cite this article: Khandelwal S, Gupta D, Likhyani L. A Case of Dentin Dysplasia with Full Mouth Rehabilitation: A 3-year Longitudinal Study. Int J Clin Pediatr Dent 2014;7(2): 119-124.

Rootless teeth: Dentin dysplasia type I.

A rare case of hereditary disturbance of dentine, Dentin dysplasia type I is presented, which is characterized by short or total absence of roots, obliterated pulp chambers, and peri-apical radiolucencies. It affects both primary and secondary dentition. Management of patients with dentinal dysplasia is difficult and requires a multidisciplinary approach. An overview of dentin dysplasia and its management along with a case report is discussed.