The Smith-Lemli-Opitz syndrome and dentofacial anomalies diagnostic: Case reports and literature review.

Objective: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder. It is due to a deficiency of 7-dehydrocholesterol reductase (DHCR7) that catalyses the reduction of 7-dehydrocholesterol (7-DHC) to cholesterol. The aim of this review is to gather all information, concerning diagnostic characteristics of this syndrome, with an emphasis on intraoral symptom presentation.

[Condylar hyperplasia: qualitative and quantitative study of temporomandibular joints remodeling before and after condylectomy].

Purpose: This retrospective study aimed to evaluate bone remodeling of temporo-mandibular joints (TMJ) using computed tomography (CT) before and after condylectomy for condylar hyperplasia.

Material And Method: TMJ bone remodeling was studied by comparing the pre and postoperative CT scan of ten patients. Qualitative evaluation was performed by two-dimensional analysis.

[Extended resection and radiotherapy for primary intraosseous maxillary carcinoma].

Introduction: Primary intraosseous maxillary carcinoma is a rare squamous cell carcinoma developing from remnants of the odontogenic epithelium. Risk factors are unknown and it may occur at any age. Little epidemiological data is available and few series include a sufficient number of patients.

A novel mutation in transforming growth factor-beta induced protein (TGFβIp) reveals secondary structure perturbation in lattice corneal dystrophy.

Background: To describe mutations in the transforming growth factor-beta induced (TGFBI) gene in Asian patients with Bowman's membrane as well as stromal corneal dystrophies, and to elucidate their structural implications, using model peptides.

Methods: Twenty-two unrelated Asian families were examined clinically including visual acuity testing and ocular examination with slit lamp biomicroscopy. Genomic DNA was extracted and the 17 exons of the TGFBI gene were amplified by PCR and sequenced bi-directionally.

[Severe late rectal bleeding after biopsy of prostate: a case report].

The biopsy of the prostate is a common medical act, which is little invasive and can easily be practiced in external care. Some cases of early rectal or urinary bleedings, which mainly stopped spontaneously, have been described in the literature. The case reported here is that of a patient whose hemorrhagic syndrome arose more than two weeks after the biopsy and required an endoscopic haemostatic treatment.