Genetic consultation was given to three children with microcephaly, mental retardation, and spastic diplegia.

first cousin parents with two children with microcephaly and periventricular calcification were referred to our genetic counseling center. no other particular dysmorphic features were seen. intrauterine cmv infection was considered for the first child. however, the condition recurred in the second child. in this report, the importance of congenital cmv infection and its differentiation from mic...

OBJECTIVE To make evidence-based recommendations concerning the evaluation of the child with microcephaly. METHODS Relevant literature was reviewed, abstracted, and classified. RECOMMENDATIONS were based on a 4-tiered scheme of evidence classification. RESULTS Microcephaly is an important neurologic sign but there is nonuniformity in its definition and evaluation. Microcephaly may result fr...

BACKGROUND Autosomal recessive primary microcephaly is a disorder of neurogenic mitosis that causes reduction in brain size. It is a rare heterogeneous condition with seven causative genes reported to date. Mutations in WD repeat protein 62 are associated with autosomal recessive primary microcephaly with cortical malformations. This study was initiated to screen WDR62 mutations in four consang...

Studies have found convincing evidence of association of ZIKV with Guillan-Barre Syndrome (GBS), a small preliminary report suggests association with microcephaly in one location. We have previously found a plausible cause (molecular mimicry to Polio Virus Receptors A, B and C). We also found plausible evidence of pathways from ZIKV infection to microcephaly though P53-BAX-mitochondrial mediate...

Zika virus (ZIKV) is an emerging mosquito-borne pathogen. ZIKV infection is linked to the development of severe fetal abnormalities that include spontaneous abortion, stillbirth, hydranencephaly, and microcephaly. ZIKV outbreaks have been recorded in the United States. We recently demonstrated the first congenital ZIKV infection in the United States. In this study, we investigated archived bloo...

We summarize current evidence on the prevalence of Zika and microcephaly in Brazil and Colombia and conclude that the expectation of a large number of microcephaly cases outside of Brazil has not been realized. The ratio of microcephaly to Zika cases is inconsistent between Colombia and Brazil and between Brazilian states, where the majority of cases are confined to the northeast region. At the...

abstract objective the last two decades have seen major advancements in our understanding of some of the most common neurodevelopmental disorders in the field of child neurology. however, in the majority of individual patients, it is still not possible to arrive at a molecular diagnosis, due in part to lack of knowledge of molecular causes of these tremendously complex conditions. common geneti...

A recent outbreak of Zika virus (ZIKV) in Brazil is associated with microcephaly in infants born of infected mothers. As this pandemic spreads, rapid scientific investigation is shedding new light on how prenatal infection with ZIKV causes microcephaly. In this analysis we provide an overview of both microcephaly and ZIKV, explore the connection between prenatal ZIKV infection and microcephaly,...