Background: Mutations in the fibrillin -1 gene (FBN1) cause Marfan syndrome (MFS), an autosomal dominant multi-system connective tissue disorder. The 200 different mutations reported in the 235 kb, 65 exon-containing gene include only one family with a genomic multi-exon deletion. Methods: ...
Keratoconus is a common progressive corneal disorder that can be associated with significant ocular morbidity. Various corneal imaging techniques have been used for the diagnosis of established cases. However, in the early stages of the disease, which include subclinical keratoconus and forme fruste kera...
See connective tissue disorders; occlusion, punctal. collarette Line separating the pupillary zone from the ciliary zone which can be seen on the anterior surface of the iris. In the normal iris, it is an irregular circular line lying about 1.5 mm from the pupillary margin (Fig. C13). ...
INTRACRANIAL ANEURYSMS ARE uncommon in children, and their presence often leads to suspicion of a systemic connective tissue disorder. We describe the case of a young male patient with progressive hemifacial atrophy (Parry-Romberg diseas... WI Schievink,JF Mellinger,J Atkinson - 《Neurosurgery》 被...
Many Degos' disease variants have been described including benign cutaneous Degos' disease, familial Degos' disease, atrophie blanche with Degos'-like features, and connective tissue diseases With similar findings. The course, prognosis, and treatment have substantially varied. We present four patients...
of the integrity of the corneal collagen matrix in keratoconus. For the first time, we have identified a substantial role for cell differentiation pathways and stem cell regulators such as KLF4 and KLF5 in the pathogenesis of keratoconus, and a role for genes influencing connective tissue maturity...
(~1 cm) cut, and sterile forceps were used to pull apart the superficial connective tissue and neck muscles in an anterior-to-posterior direction to expose the cisterna magna, where the cerebellum and medulla were visible behind the translucent dural membrane. A cotton swab (Sugi) was used...
In OI and other connective tissue disorders, Gly substitutions in the nucleation domain can prevent the folding of the triple helix nucleus, resulting in the accumulation of unfolded molecules. However, in synthetic peptides with the Ala substitution in the nucleation domain, the peptides still ...
If your child is diagnosed with a pediatric blood disorder, KIMS paediatric hematology experts are here to help. Our boa... Read More... Centre For Genetic Metabolic Disorders The Division of Pediatric Genetics and Metabolism at KIMS offers diagnosis, management, and genetic counseling for child....
Decreased or aberrant collagen synthesis generally results in defective tissue mechanical properties as the classic form of Elhers-Danlos syndrome (cEDS). This connective tissue disorder is caused by mutations in collagen V genes and is mainly characterized by skin hyperextensibility. To investigate the...