Kabuki syndrome (KS, Niikawa-Kuroki syndrome, MIM:147920) is a rare multiple congenital anomaly/mental retardation syndrome described simultaneously by Niikawa et al, 1988 and Kuroki et al, 1981. The estimated frequency of this syndrome is about 1/32 000 in Japan. KS is characterized by postnatal growth retardation, distinctive facial features, dermatoglyphic anomalies, skeletal dysplasia, and ...

Intrauterine growth retardation (IUGR) refers to fetal growth that has been constrained in utero. It results in newborns that have not attained their full growth potential and are already malnourished at birth. Fetuses that suffer from growth retardation have higher perinatal morbidity and mortality and are more likely to experience poor cognitive development and neurologic impairment during ch...

Epilepsy is one of the most frequently associated conditions with mental retardation which interferes with the learning process. Vie present study investigates the 1207 cases (Male -8I4, Female-393) registered at NIMH, Secunderabad, over a period of two years. Vie factors studied were the prevalence of epilepsy, degree of mental retardation, aetiology and associated factors. Ten mentally retard...

A 3-year-old girl, her mother, and maternal uncle had microcephaly and mental retardation. Their facial appearance is characterized by deep-set eyes, short philtrums, and a "beaked" nose. The mother and uncle live in an adult foster care facility because of mental retardation. The 3-year-old girl has a developmental quotient of 55. Mother has normal phenylalanine level and the child's chromosom...

Introduction Fragile X Syndrome (FXS) is the most common form of inherited mental retardation, caused by a trinucleotide repeat expansion resulting in silencing of the fragile X mental retardation 1 (FMR1) gene in humans. The array of disorders caused by mutations in this single gene includes mental retardation and autistic behaviors. There is much evidence that the protein product, fragile X m...