Odontogenic keratocyst and multiple supernumerary teeth in a patient with Ehlers-Danlos syndrome - A case report and review of the literature

Ehlers-Danlos syndrome (EDS) is a hereditary disorder of the connective tissue related to collagen metabolism. Deficiency or alteration of the collagen present in the tissues results in some classic signs such as skin hyperelasticity, articular hypermobility, and vascular fragility, among others. In addition, EDS oral manifestations are rarely cited in the literature. The aim of this article is to report a rare case of a young female patient with EDS who presented supernumerary teeth and an odontogenic keratocyst. There is no report in the literature of the simultaneous occurrence of these alterations. The article further highlights the importance of EDS diagnosis in patients who need dental treatment and the due care for their assistance.

Congenital Bilateral Perisylvian Syndrome: Familial Occurrence, Clinical and Psycholinguistic Aspects Correlated with MRI

Objective: Congenital bilateral perisylvian syndrome (CBPS) is frequently caused by polymicrogyria (PMG). The aim of this study was to correlate the clinical and psycholinguistic aspects with neuroradiological data of patients with CBPS. Methods: Thirty-one patients were studied. We performed a clinical investigation of the patients and their families, including MRI scanning, neuropsychological tests and language evaluation. Results: The statistical analysis showed that: a) prenatal events are associated with the non-familial type of PMG; b) diffuse PMG is associated with pseudobulbar signs, as opposed to BPPP; c) motor deficit is associated with diffuse PMG; d) epilepsy is equally present in patients with both familial or non-familial PMG, but is more frequently seen in patients with diffuse PMG; e) dyslexia and SLI can be a feature of both the diffuse or BPPP, and either familial or sporadic cases of PMG. Conclusions: The severity of clinical manifestations in CBPS is correlated with the extent of cortical involvement. Most patients with CBPS have a history of speech delay or language difficulties and no epilepsy. Dyslexia can be found in patients with PMG.

A new candidate locus for bilateral perisylvian polymicrogyria mapped on chromosome Xq27

Polymicrogyria (PMG) is characterized by an excessive number of small and prominent brain gyri, separated by shallow sulci. Bilateral perisylvian polymicrogyria (BPP) is the most common form of PMG. Clinical signs include pseudobulbar paresis, mental retardation, and epilepsy. Familial forms of BPP have been described and a candidate locus was previously mapped to chromosome Xq28, distal do marker DXS8103. The objective of this study was to perform linkage analysis in one family segregating BPP. A total of 15 individuals, including 8 affected patients with BPP were evaluated. Family members were examined by a neurologist and subjected to magnetic resonance imaging scans. Individuals were genotyped for 18 microsatellite markers, flanking a 42.3 cM interval on ch Xq27-q28. Two-point and multipoint linkage analysis was performed using the LINKAGE package and haplotype reconstruction was performed by GENEHUNTER software. Our results showed a wide spectrum of clinical manifestations in affected individuals with BPP, ranging from normal to mild neurological abnormalities. Two-point linkage analysis yield a Zmax=2.06 at theta=0.00 for markers DXS1205 and DXS1227. Multipoint lod-scores indicate a candidate interval of 13 cM between markers DSXS1205 and DXS8043, on ch Xq27.2-Xq27.3. These results point to a new locus for BPP in a more centromeric location than previously reported. (C) 2008 Wiley-Liss, Inc.

Characterization of language and reading skills in familial polymicrogyria

Polymicrogyria (PMG) is a malformation of cortical development characterized by an excessive number of small gyri and abnormal cortical lamination, giving the cortical surface an irregular and gross appearance. The severity of clinical manifestations correlates with the extent of cortical involvement. The objective of the present study was to describe three families with linguistic features of developmental language disorder and reading impairment, and to establish a neuroanatomic correlation through neuroimaging. Subjects have been submitted to a comprehensive protocol including psychological assessment, language evaluation, neurological examination, and neuroimaging investigation. In our families, children usually had the diagnosis of developmental language disorder while adults had the diagnosis of reading impairment. MRI showed perisylvian polymicrogyria in several subjects of each family. Our data support the idea that there is a co-occurrence of developmental language disorder and reading impairment and both conditions may be associated with polymicrogyria. (c) 2007 Elsevier B.V. All rights reserved.

Open-bite orthodontic-surgical treatment in the Klippel-Trenaunay-Weber syndrome: a case report

We describe the orthodontic treatment of a patient with Klippel-Trenaunay-Weber syndrome (KTWS) who received orthodontic treatment that included rapid palatal expansion and orthognathic surgery. There is no report in the literature with this orthodontic treatment protocol, that was considered successful. The pros and cons of this approach as well as the risks involved are discussed. (Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2010; 109: e17-e25)