1/23. Pentasomy X and hyper IgE syndrome: co-existence of two distinct genetic disorders.We describe a 10-year-old girl with features of a penta-X syndrome. cytogenetic analysis revealed a 49,XXXXX karyotype and molecular analysis of X-linked polymorphic markers showed that this aneuploidy arose by successive maternal non disjunctions. Apart from these features the patient has a lifelong history of eczema, recurrent pneumonia, and staphylococcal abscesses. Together with consistently increased serum IgE levels, low antibody responses, and low levels of serum IgA and IgG2, these findings are characteristic for the hyper IgE syndrome. While pentasomy X may be due to sequential non disjunctions in meiosis I and meiosis II in the mother, the underlying pathomechanism in hyper IgE syndrome remains unclear. This case is the first with co-existence of pentasomy X and hyper IgE syndromes.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
2/23. Considerations in dental treatment of children with ectodermal dysplasia.Characteristics of ectodermal dysplasia and agammaglobulinemia have been presented and a case in a 6 1/2-year-old boy having both genetic diseases is reported. The child had been mocked by his peers at school. A maxillary overlay denture and mandibular cast denture were constructed using a Baker bar and cast gold thimble crowns. The parents reported that the patients personality changed favorably after dental treatment was completed. He is now 13 years of age, has had his dentures replaced once, and enjous a rather active life with the aid of antibiotics and supplemental globulins.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
3/23. Epiglottic hypoplasia associated with lacrimo-auriculo-dental-digital syndrome.We present a case of a young boy with clinical manifestations of lacrimo-auriculo-dental-digital syndrome (LADD) with the additional finding of a hypoplastic epiglottis that caused airway obstruction at birth. We also reviewed the 30 cases of LADD that have been reported since 1967. It is a rare syndrome that includes lacrimal system, aural, digital, and dental anomalies. Our patient has lacrimal duct obstruction, deficient tissue in the inferior portion of the ear pinnae, and a hypoplastic epiglottis with collapse of the supraglottic tissue. Many findings of LADD are recognizable at birth. The clinical spectrum has widened with more case reports. Our patient adds a life-threatening airway abnormality, a hypoplastic epiglottis, to the clinical spectrum of LADD.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
4/23. Impaired dentofacial development after radiotherapy of a non-Hodgkin lymphoma: report of case.Since the advances in therapy of childhood malignancies have improved life expectancy attention is now increasingly focused on the long-term effects of antineoplastic therapy. Developmental abnormalities due to antineoplastic therapy have been claimed to preferentially occur in children treated before the age of six years. This report of a case demonstrates severe developmental disturbances following radiotherapy of a cervical non-Hodgkin lymphoma at the age of eight years. The morphological changes included microdontia, root shortening, blunting and thinning as well as mandibular hypoplasia.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
5/23. Traditional tooth bud gouging in a Ugandan family: a report involving three sisters.It has been reported in the literature that some rural populations of Sub-Saharan and Eastern africa and other isolated areas around the world, practise gouging or enucleation of primary tooth buds to cure childhood illnesses. The unerupted primary canine tooth bud is believed to be the cause of febrile illness, diarrhoea, and vomiting; prevalent in infants in these areas of the world. Tooth bud gouging has implications for the developing dentition, and is a potential risk to the health and life of the child. Reported prevalence ranges from 22%-90%. From the information in this case report, the practise of tooth bud gouging is no longer confined to rural areas and may well be performed by communities that have emigrated to the UK. The three sisters described, now resident in the UK, suffered tooth gouging in a city clinic in uganda. The damage caused to the primary and permanent dentition is described and treatment planning and options are suggested for each case to restore structure and function. Appropriate provision of healthcare and education could avoid the potential long-term damage to the health of the child and their developing dentition by the practise of tooth bud gouging, whether it occurs in the developing or developed world.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
6/23. Clinical treatment of ectodermal dysplasia: a case report.ectodermal dysplasia is both physically and emotionally devastating to patients. With proper restorative intervention, the quality of life can be improved for patients with ectodermal dysplasia. This case report outlines a method of restoring function and esthetics for a 14-year-old boy with ectodermal dysplasia. It is important that these patients be treated at an early age to aid in their social interactions.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
7/23. Menkes disease: report of two cases.Menkes disease is a rare, autosomal recessive disorder characterized by neuronal degeneration, abnormal hair, malformed connective tissue, mental retardation, and a life span of three years. Previously reported dental findings include a high arched palate, delayed eruption of secondary dentition, and open bite. The case of twin seven-year-old males with Menkes disease is presented, along with previously unreported dental findings of spindle-shaped root resorption patterns on the primary maxillary central and lateral incisors.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
8/23. General and dental characteristics of Bloch-Sulzberger syndrome. review of literature and presentation of a case report.A case report of Bloch-Sulzberger incontinentia pigmenti is presented, in which the dental symptoms are considered as a base, not just for a review of this disorder within the scope of Integrated Paediatric dentistry, but also in order to establish an adequate dental treatment for the affected children. There should be interdisciplinary coordination, leading to better treatment and therefore an improved quality of life for these patients.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
9/23. The natural history, including orofacial features of three patients with ehlers-danlos syndrome, dermatosparaxis type (EDS type VIIC).ehlers-danlos syndrome (EDS) dermatosparaxis type (type VIIC) and the related disease of cattle dermatosparaxis, are recessively inherited connective tissue disorders, caused by a deficient activity of procollagen I N-proteinase, the enzyme that excises the N-terminal propeptide in procollagen type I, type II, and type III. Although well documented in cattle, to date only seven human cases have been recorded, most of them aged under 2 years. We document the natural history of three patients with EDS dermatosparaxis type, two of whom have been reported before the age of 2 years, and one new patient. The phenotype of the patients, and especially the facial resemblance, is striking, making this a clinically recognizable condition. The most consistent anomalies during the first years of life are premature rupture of the membranes, extreme skin fragility and easy bruising, large fontanels, blue sclerae, puffy eyelids, micrognathia, umbilical hernia, and short fingers. Joint hypermobility becomes more important with age. The children are at risk for rupture of internal organs due to soft tissue fragility, as is illustrated by different internal events in two of the three patients described here. Orofacial features include micrognathia, a frontal open bite, and gingival hyperplasia with varying degrees of hyperkeratosis. The deciduous dentition shows abnormal morphology of the molars, obliteration of the tooth pulp, and severe enamel attrition. The permanent dentition shows agenesis and microdontia of several teeth. tooth discoloration, dysplastic roots, and tooth pulp obliteration are present in a restricted number of permanent teeth.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
10/23. Dental abnormalities of a long-term survivor of a childhood hematological malignancy: literature review and report of a case.The treatment of haematological malignancy is multimodal and involves chemotherapy, radiotherapy and/or bone marrow transplants. With the advancement in cancer therapy, there is an increase in the survival of many children with childhood haematological malignancy. In addition, the late effect of the oncology treatment to the orofacial and dental development becomes significant in terms of the potential clinical impact that may affect the quality of life of the survivor. The severity of the long-term effects is dependent on the age of the child at initiation of treatment and whether chemotherapy is combined with radiation or not. The dental treatment may become more complex if the patient requires advanced restorative dental care and the roots malformation may complicate orthodontic treatment. Therefore these patients may require a scheduled careful preventive programme, long-term follow up, with prophylactic treatment and intervention at appropriate time to minimize the consequences of the disease and the given therapy.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
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