We studied 21 patients with Sanjad-Sakati syndrome (SSS) from 16 families. Parental consanguinity was recorded in 2 families (12.5%). All patients had severe intrauterine growth retardation, short stature, small hands and feet, blue sclera, deep-set eyes, microcephaly, persistent hypocalcaemia and hypoparathyroidism. Medullary stenosis was detected in 2 patients. Cytogenetic and fluorescent in ...

Osteogenesis imperfecta (OI) is a rare inherited disorder of the connective tissue with many reports on its association with bleeding diatheses. OI patients with blue sclera, hearing loss, and bone vulnerability are classified as having van der Hoeve syndrome. Here, we report the first case of rapidly progressing, massive esophageal submucosal hematoma in this syndrome. Bleeding in OI is report...

Osteogenesis imperfecta (OI) is a congenital disorder primarily caused by mutations in COL1A1 and COL1A2 genes. Clinical features vary from mild to lethal and include malformed and easily fractured bone, brittle teeth, curved spines, muscle weakness, loose joints, and blue sclera. Pain is common in OI patients which impedes their lives. Managing OI pain remains suboptimal even with available ap...

Osteogenesis imperfecta is a heterogeneous genetic disorder characterized by bone fragility and deformity, recurrent fractures, blue sclera, short stature, and dentinogenesis imperfecta. Most cases are caused by mutations in COL1A1 and COL1A2 genes. We present a novel splicing mutation in the COL1A1 gene (c.1875+1G>C) in a 16-year-old Brazilian boy diagnosed as a type III osteogenesis imperfect...

Sclera vein recognition is an evolving technology for the pattern recognition system that recognize a person for authentication .sclera vein recognition presents a challenging problem in the field of image analysis and computer vision, and as such has received a great deal of attention over the last few years because of its many applications in various domains. This paper has several contributi...

PURPOSE The present study was undertaken to examine the relationship between choroidal permeability and scleral glycosaminoglycan synthesis rates during the development of and recovery from form deprivation myopia. METHODS Form deprivation myopia was induced in chicks for 10 days and was followed by a period of unrestricted vision for 0 to 15 days (recovery). Choroidal permeability was quanti...

In the present study, we compared hemolytic activities of C1, C4, C2, C3, C5, C6 and C7 in the anterior and posterior sclera. Additionally, we used radial immunodiffusion to measure levels of Factor B, IgG, IgA and albumin in the anterior and posterior sclera. Except for C1, complement levels were significantly higher in the posterior than anterior sclera. Additionally, levels of immunoglobulin...

.:X ......... hydroxyproline content. Arachnodactyly is diagnosed when the metacarpal index (length/ width of metacarpals II-V) is greater than 8 4. It is also found in association with homo: :. ....cystinuria, and in some patients with homozygous (SS) sickle-cell disease. The main ocular defect, which occurs in almost every case, is ectopia lentis, though microphakia and spherophakia, miosis d...

background: alkaptonuria is a rare genetic disease leading to the accumulation of homogentesic acid in joint and ear cartilage, sclera and some other tissues causing significant morbidity in these patients. in this paper, we report three cases of alkaptonuria among the family or household members. case presentation: a 51-year-old man with mechanical low back and knee pain was referred to rheuma...

Case presentation: Male patient, 1 year-old, born and resident in Maranhão. Mother reported reduced fetal movement, after birth some dysmorphisms were identified such as deformity the lower limbs, characterized by arthrogryposis, bilateral congenital clubfoot, dislocation of hip fracture right femur perceived on fifth day life. During development, generalized hypotonia significant motor delay n...