Twenty children with corpus callosum agenesis or hypoplasia were evaluated under a standardized investigation protocol. Psychomotor retardation, seizures, and craniofacial anomalies were the most prominent findings. There were three cases of chromosomal anomalies, all of them representing trisomy of chromosome 8.

Craniofacial anomalies can arise from both genetic and environmental factors, including prenatal hypoxia. Recent clinical evidence correlates hypoxia to craniofacial malformations. However, the mechanisms by which hypoxia mediates these defects are not yet understood. We examined the cellular mechanisms underlying malformations induced by hypoxia using a chicken (Gallus gallus) embryo model. Eg...

For all intents and purposes, craniofacial development is initiated as soon as the anteroposterior axis of an embryo is established. Although the neural crest receives a significant amount of attention, craniofacial tissue has more patterning information than other tissues of the body. New studies have further clarifi ed the contribution of ciliary epithelia as a source of patterning informatio...

A condensed review of the morphogenetic mechanisms of facial fabrication, providing insights into developmental anomalies of clinical concern. Genetics, epigenetics and regulation of molecular, cellular, tissue and organ formation are being elucidated in normal and dysmorphological patterns. The pathogenesis of craniosynostosis is related to fibroblast growth factor expression. Analysis of a 28...

This paper describes the outcome of the 2013 American Cleft Palate-Craniofacial Association Task Force entitled "Speech Therapy Where There Are No Speech Therapists." The membership and goals of the initial task force are presented. Survey methods, communication of the members, and meeting discussion of the task force at the 12th International Congress for Craniofacial Anomalies in Orlando, Flo...

The first three disorders discussed are abnormalities of bone: too little bone in cleidocranial dysplasia caused by mutations in RUNX2; too much bone in fibrodysplasia ossificans progressiva with overexpression of BMP4; and abnormal bone in McCune-Albright syndrome and fibrous dysplasia caused by mutations in GNAS1. Disorders of the sonic hedgehog signaling network are discussed next, including...

Cleft lip and palate is the most common among craniofacial malformations and causes several esthetic and functional implications that require rehabilitation. This paper aims to generally describe the several aspects related to this complex pathology and the treatment protocol used by the Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRAC-USP) along 40 years of ...