A case presented here is that of a nine year old male patient with total anodontia. Findings of this case as regards to the orofacial, radiographic and other general manifestations were suggestive of hypohidrotic ectodermal dysplasia. The dental problems were best managed by prosthetic replacement of dentition taking into consideration a design which would provide adequate relief for the preser...

Hypertension has a long list of primary as well as secondary causes. Fibromuscular dysplasia is amongst the rare secon­ dary causes of hypertension. Intimal fibroplasia as a pathologic cause occurs in less than 10% of patients with fibromuscular dysplasia. We report a rare case of hypertension due to intimal fibromuscular dysplasia of renal artery, treated successfully with renal angioplasty an...

Fibroblast growth factor receptor 3 (FGFR3) is the only gene known to cause achondroplasia (ACH), hypochondroplasia (HCH), and thanatophoric dysplasia types I and II (TD I and TD II). A second, as yet unidentified, gene also causes HCH. In this study, we used sequencing analysis to determine the frequency of FGFR3 mutations for each phenotype in 324 cases from the International Skeletal Dysplas...

Spondylometaphyseal dysplasia is a type of bone dysplasia characterized by vertebral and metaphyseal changes of varying severity. Diagnosis of the disease is difficult because the severity of bone involvement differs and symptoms change according to the age of the patient. In this study, radiographic findings of a 16 month-old male patient diagnosed as Kozlowski type spondylometaphyseal dysplas...

This review presents the mechanistic underpinnings of corticospinal tract (CST) development, derived from animal models, and applies what has been learned to inform neural activity-based strategies for CST repair. We first discuss that, in normal development, early bilateral CST projections are later refined into a dense crossed CST projection, with maintenance of sparse ipsilateral projections...

Spontaneous dissections of the extracranial internal carotid artery are diagnosed more frequently as their clinical and angiographic features are more widely recognized. Familial occurrence of spontaneous dissection of the internal carotid artery has not been previously reported. We describe the occurrence of this entity in a mother and daughter and also in a father and son. The familial occurr...

Practical experience of a genetic disorder may influence how parents approach reproduction, if they know their child may be affected by an inherited condition. One important aspect of this practical experience is the stigmatisation which family members may experience or witness. We outline the concept of stigma and how it affects those in families with a condition that impacts upon physical app...

Cemento-osseous dysplasia is a disorder typically found in middle-aged black women. However, the present report describes a case in a 61-year-old Vietnamese male. Without proper pulp testing and diagnosis, the radiographic presentation can easily be misdiagnosed as periapical periodontitis. On the basis of pulp vitality, lack of clinical symptoms and radiographic features, the diagnosis in this...

Animals have evolved diverse appendages adapted for locomotion, feeding and other functions. The genetics underlying appendage formation are best understood in insects and vertebrates. The expression of the Distal-less (Dll) homeoprotein during arthropod limb outgrowth and of Dll orthologs (Dlx) in fish fin and tetrapod limb buds led us to examine whether expression of this regulatory gene may ...

Two different forms of dyssegmental dysplasia can be distinguished; the lethal Silverman-Handmaker type and less severe Rolland-Desbuquois type. Patients with Rolland-Desbuquois type often survive beyond neonatal period. The purpose of this paper is to report a rare case of Dyssegmental dysplasia, Rolland-Desbuquois type from Pakistan.