1/7. 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 = physical (Clic here for more details about this article) |
2/7. Use of dental implants in patients with down syndrome: a case report.down syndrome is caused by trisomy of the 21st chromosome and is associated with well-described physical and systemic problems. Most people with down syndrome have some degree of mental retardation as well as malformation of head and neck. Oral structures that are commonly affected include the tongue (macroglossia), abnormalities in the number and shape of teeth, and poor quality (osteoporotic-like) of alveolar bone and jaw. These oral malformations as well as a tendency toward poor cooperation in the dental office contribute to the belief among dentists that people with down syndrome are not good candidates for oral rehabilitation with dental implants. This article describes the use of dental implants in the oral rehabilitation of a 16-year-old boy with down syndrome. Although more experience is needed before dental implants can be considered a suitable option during oral rehabilitation in people with down syndrome, this case report shows a promising beginning.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/7. incontinentia pigmenti (IP2): familiar case report with affected men. literature review.incontinentia pigmenti is a genodermatosis described by Garrod and in 1920 by Bloch, Sulzberger, Siemens y Bardach. It is an ectodermic disorder that affects skin, teeth, eyes and may also have neurological problems. The IP2 name describes the histological characteristics, the incontinence of melanin into the melanocytes cells in the epidermal basal layer and its presence in superficial dermis. IP2 is an x-linked dominant condition but genetic heterogeneity may exist. CASE REPORT: The patient was 4 yrs 5 months old when she came for the first time. In a physical exploration she presented sparse and thin hair, eyelashes and eyebrows, beaked nose, labial protrusion, the four central teeth have a conic crown and there was also a delayed eruption of other teeth, right eye strabismus, hipoacusia, language defects and a trunk, legs, feet, and face dermatosis characterized by grouped vesicles, hyperkeratotic and warty lesions and brownish-gray lesions in a lineal pattern. The patient s father had hypopigmented lesions in the posterior regions of both legs. The oral clinical and radiographic exams showed diverse anomalies. Both the patient's and the father's chromosomal studies were normal. DISCUSSION: In the present case we can see that the father has IP2 without supernumeraries X, with the antecedent that his mother had something similar. It is possible that the inheritance was autosomic dominant or it is a different mutation of NEMO (NF-kappa-B essential modulator) gene to a classical one, which was found in some affected men. It is necessary to carry out a molecular study of these patients.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/7. Hurler's syndrome: dental findings in a case treated with bone marrow transplantation in infancy.Hurler's syndrome, also known as mucopolysaccharidosis i (MPS I-H), is a rare condition inherited as an autosomal recessive trait. It is caused by a deficiency in alpha-L-iduronidase, an enzyme that participates in the degradation of the glycosaminoglycans (GAGs) heparin sulphate and dermatan sulphate. Children with Hurler's syndrome appear nearly normal at birth but, left untreated, show a progressive mental and physical deterioration caused by a build-up of GAGs in all organs of the body. death is often caused by cardiac or respiratory failure and usually occurs before the second decade of life. In recent years, bone marrow transplantation (BMT) has been employed in the management of patients with Hurler's syndrome. However, the dental findings observed in these cases have not previously been reported in the dental literature. Here we report a patient aged 11 years and 6 months, presented to a Specialist Paediatric dentistry Unit, who was successfully treated by BMT at 18 months of age.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/7. Dental abnormalities associated with a chromosome 2 deletion.This case report describes the dental and physical anomalies observed in a young female patient who had a chromosome abnormality involving deletion of the q 33-q 35 region of chromosome 2. The dental dysplasia observed in this patient is proposed to be of genetic origin but the complication of anoxia at birth makes it difficult to assign the intellectual and physical impairments solely to the genetic deletion.- - - - - - - - - - ranking = 2keywords = physical (Clic here for more details about this article) |
6/7. X-linked dysmorphic syndrome with mental retardation.We present a dysmorphic syndrome in eight males of the same family (four brothers, three cousins and one uncle) that is characterised by: mental retardation, facial dysmorphia, abnormal growth of teeth, skin dimple at the lower back, clinodactyly, patella luxation, malformation of lower limbs, abnormalities of the fundus of the eye and subcortical cerebral atrophy. These physical defects do not correspond to any previously described syndrome, which suggests that it is a new syndrome. According to the model of heredity this syndrome could be due to a mutant gene situated in the X-chromosome.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
7/7. Distal arthrogryposis type IIB: further clinical delineation and 54-year follow-up of an index case.Distal arthrogryposis IIB is characterized by contractures of the distal joints (especially of the fingers and toes) and ptosis. We recently encountered a father and son with these manifestations. The father was reported 54 years ago as a case of amyoplasia congenita (arthrogryposis multiplex congenita). Both father and son have distal joint contractures, most severe in the hands and feet, as well as ptosis and ophthalmoplegia. In addition, these patients have an unusual distribution of hair loss, and conical teeth. Whether these latter findings are related to the type of distal arthrogryposis present in this family is not known. In spite of their physical limitations both father and son have maintained an active life-style.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |