Hurler syndrome: orofacial, dental, and skeletal findings of a case.

Hurler syndrome is a disorder of mucopolysaccharide metabolism caused due to inherited deficiencies of lysosomal α-l-iduronidase activity. We present a case of a 15-year-old male patient presenting with clinical and laboratory characteristics of the syndrome. A rare combination of skeletal, ophthalmologic, and dental findings was observed in this patient. Mucopolysaccharides excretion spot test of urine was positive and an assay of alpha-l-iduronidase enzyme was deficient, confirming the clinical diagnosis of Hurler syndrome.

A case of Robinow-Sorauf syndrome (Craniosynostosis-Bifid Hallux Syndrome): The allelic variant of the Saethre-Chotzen syndrome.

The clinical classification of Robinow-Sorauf syndrome has changed over the last few decades. Robinow-Sorauf syndrome is characterized by facies similar to those of Saethre-Chotzen syndrome with bifid or partially duplicated halluces. The current outlook is that the 'Robinow-Sorauf' families are examples of variable expression of the TWIST mutant phenotype and that the 'Robinow-Sorauf' syndrome lies within the spectrum of the Saethre-Chotzen syndrome. We present a case of 19-year-old female patient exhibiting classical clinical and radiological features of Robinow-Sorauf phenotype of Saethre-Chotzen syndrome. A brief review of previously reported cases and nosology has been presented.

Disseminated non-Hodgkin's lymphoma presenting as bilateral salivary gland enlargement: a case report.

Non-Hodgkin's lymphoma (NHL) constitutes a group of malignancies those arises from cellular components of lymphoid or extranodal tissues. The head and neck is the most common area for the presentation of these lymphoproliferative disorders. Primary involvement of salivary glands is uncommon. This report described a case of a 73-year-old female patient who presented with involvement of both nodal and extranodal sites, with predominant involvement of salivary glands. The tumor staging worked up along with imaging, histopathological, and immunohistochemical findings were discussed. Computed tomographic images showed the involvement of Waldeyer's ring, larynx, orbit, and spleen. This report described imaging and prognostic tumor markers in diagnosing, treatment planning, and prognosis.

Anatomy and morphology of the nasopalatine canal using cone-beam computed tomography.

PURPOSE: This study was performed to evaluate the general anatomy and morphology of the nasopalatine canal using cone-beam computed tomography (CBCT) and to determine the human anatomic variability of the nasopalatine canal in relation to age and gender. MATERIALS AND METHODS: The study included 100 subjects aged between 20 and 86 years who were divided into the following 3 groups: 1) 20-34 years old; 2) 35-49 years old; 3) ≥50 years old. The subjects were equally distributed between the genders. CBCT was performed using a standard exposure and patient positioning protocol. The data of the CBCT images were sliced in three dimensions. Image planes on the three axes (X, Y, and Z) were sequentially analyzed for the location, morphology and dimensions of the nasopalatine canal by two independent observers. The correlation of age and gender with all the variables was evaluated. RESULTS: The present study did not reveal statistically significant differences in the number of openings at the nasal fossa; diameter of the nasal fossa openings; diameter of the incisive fossa; shape, curvature, and angulation of the canal as viewed in the sagittal sections; antero-posterior dimensions and length of the canal in the sagittal sections; or the level of division of the canal in the coronal plane by age. However, males and females showed significant differences in the length of the canal in the sagittal sections and level of the division of the canal in the coronal plane. CONCLUSION: The present study highlighted important variability observed in the anatomy and morphology of the nasopalatine canal.

Type III Klippel-Feil syndrome: case report and review of associated craniofacial anomalies.

Klippel-Feil syndrome (KFS) is a complex syndrome of osseous and visceral anomalies that include the classical clinical triad of short neck, limitation of head and neck movements and low posterior hairline. It may also be associated with anomalies of the genitourinary, musculoskeletal, neurologic and cardiac systems. We report a case of type III KFS with associated rib anomalies such as cervical rib, fusion and bifid ribs, scoliosis and fused crossed renal ectopia. The aim of this paper was to summarize all craniofacial anomalies that occur in association with KFS, so that clinicians would be aware of them during diagnosis and treatment planning.