Total anonychia, spastic diplegia, and mental retardation in an indian boy: A novel syndrome?

White Matter Diseases YES, Multiple Sclerosis NO, Sjogren - Larsson Syndrome: Another Differential Diagnosis of Multiple Sclerosis

Sjogren-Larsson Syndrome (SLS) is an inherited autosomal recessive neurocutaneous disorder with congenital ichthyosis, spastic diplegia or quadriplegia and mental retardation. We report a case of Sjogren-Larsson Syndrome with clinical profile (mental retardation, ichthyosis, spastic diplegia) and MRI findings such as seen in multiple sclerosis (MS). So this rare syndrome can be another differen...

Two Robertsonian translocations in a boy with mental retardation.

Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia.

The combination of microcephaly, spasticity, and profound mental retardation is usually found in children with severe perinatal asphyxia or congenital infection. These children are commonly diagnosed as having cerebral palsy. However, in some children there is no evidence of a perinatal insult and there may be familial recurrence. The London Dysmorphology Database offers 104 genetic syndromes t...

Chromosomal Abnormalities in Mental Retardation: Indian Experience

At a Tertiary Genetic Centre, children with mental retardation (MR) (also referred as intellectual disability) and associated developmental disabilities were investigated for genetic diagnosis which is important in prevention and genetic counseling while offering the risk of recurrence to the family. A prospective and retrospective cytogenetic study was conducted on 1760 MR cases for chromosoma...

Mental Retardation: a Symptom and a Syndrome

Historical Perspective The plight of individuals with developmental disabilities has been dependent on the customs and beliefs of the era and the culture or locale. In ancient Greece and Rome, infanticide was a common practice. In Sparta, for example, neonates were examined by a state council of inspectors. If they suspected that the child was defective, the infant was thrown from a cliff to it...