Cockayne syndrome is a rare autosomal recessive disorder of childhood characterized by cachectic dwarfism with senile-like appearance, mental retardation, photosensitive dermatitis, loss of adipose tissue, pigmentary degeneration of retina, microcephaly, deafness, skeletal and neurologic abnormalities. We describe here an 18 year old boy with Cockayne syndrome who had, in addition to the typica...

We report eight cases of a lethal association of failure to thrive, facial dysmorphism, ambiguous genitalia, syndactyly, postaxial polydactyly, and internal developmental anomalies (Hirschsprung's disease, cardiac and renal malformation). This syndrome is likely to be autosomal recessive and resembles Smith-Lemli-Opitz (SLO) syndrome. However, the lethality, the common occurrence of polydactyly...

Grebe syndrome is a very rare form of short-limbed dwarfism. It is a genetic condition, passed by autosomal recessive inheritance. It is characterized by marked acromesomelic shortening of all the four limbs. There are no other associated anomalies. The affected baby has normal intelligence and normal life span. We present here a case of Grebe syndrome along with congenital heart disease.

objective: this study was conducted to determine the changes in the insular cortex in alcohol dependent subjects, and to compare the same with controls, the associated clinical findings. methods: the study group consisted of 30 subjects with alcohol dependence syndrome (ads) selected randomly from the out patient services of the department of psychiatry of a tertiary care hospital. the control ...

We report a female infant with the Majewski syndrome, one of a group of conditions characterised by short ribs, polydactyly, dwarfism, and early neonatal death. This syndrome seems to be extremely rare, with only five well documented cases reported and, including this case, nine recorded in all. The Majewski syndrome is considered to be recessively inherited, and this report adds further suppor...

A rare case of 40 years old female, came with complaints pain and blurring vision in the left eye for past week. The patient had a diminution since birth her eye. On examination was found to be 6/60 not improving pinhole, also defective color 20/25. right-eye normal. showed significant corneal edema, moderate anterior chamber depth, iris features Corectopia, Pseudopolycoria, atrophy. Pressures ...

Spondyloepiphyseal Dysplasia (SED) accompanying with congenital joint dislocations; is a genetic disease different subtypes that progress multiple dislocations. It occurs due to mutation in the CHST3 gene. This syndrome requires long and cascading surgeries, which presents short-bodied dwarfism, dislocations range of motion (ROM) limitations (knee, hip, elbow). In this case report, we describe ...