Radial, renal and craniofacial anomalies: <i>Baller-Gerold syndrome</i>

Radial, renal and craniofacial anomalies: Baller-Gerold syndrome

The Baller-Gerold syndrome is a rare syndrome with very few cases published in literature. Craniosynostosis and radial aplasia are striking features, easy to diagnose. However, there are many differential diagnoses. Often, the question raised is whether the Baller-Gerald syndrome is a distinct entity. We report a patient with findings of craniosynostosis and radial aplasia consistent with the d...

Chapter 16 : Craniofacial anomalies

The term craniofacial anomalies literally encompasses all congenital deformities of the cranium and face. More specifically, however, the term has come to imply congenital deformities of the head that interfere with physical and mental well-being (Marsh and Vannier, 1985). There are practically no epidemiological studies of craniofacial malformations as such. Myrianthopoulos (1982) reviewed dat...

Common craniofacial anomalies: conditions of craniofacial atrophy/hypoplasia and neoplasia.

The spectrum of craniofacial malformations includes conditions of congenital and acquired etiology. The conditions of craniofacial atrophy and hypoplasia may arise primarily or secondary to previous therapeutic interventions. The conditions of progressive hemifacial atrophy (Romberg disease) and radiation-induced hypoplasia will be reviewed on the basis of their etiology, pathogenesis, anatomy,...

Global registry and database on craniofacial anomalies Report of a WHO Registry Meeting on Craniofacial Anomalies

Pathogenesis and morphogenesis of craniofacial developmental anomalies.

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...