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.

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.