Craniofacial anomalies associated with spondyloenchondrodysplasia

Septopreoptic holoprosencephaly: a mild subtype associated with midline craniofacial anomalies.

SUMMARY HPE is a congenital brain malformation characterized by failure of the prosencephalon to divide into 2 hemispheres. We have identified 7 patients who have a mild subtype of HPE in which the midline fusion was restricted to the septal region or preoptic region of the telencephalon. This subtype, which we call septopreoptic HPE, falls in the spectrum of lobar HPE, but lacks significant fr...

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...

Dental and Craniofacial Anomalies Associated with Axenfeld-Rieger Syndrome with PITX2 Mutation

Axenfeld-Rieger syndrome (ARS) (OMIM Nr.: 180500) is a rare autosomal dominant disorder (1 : 200000) with genetic and morphologic variability. Glaucoma is associated in 50% of the patients. Craniofacial and dental anomalies are frequently reported with ARS. The present study was designed as a multidisciplinary analysis of orthodontic, ophthalmologic, and genotypical features. A three-generation...

Factors associated with peer social competence in preadolescents with craniofacial anomalies.

Examined factors associated with peer social competence in preadolescents with craniofacial anomalies (CFA). Preadolescents with relatively greater social competence reported more frequent companionship with peers, and more positive Harter (1985) Self-Perception Profile for Children perceptions of physical appearance and scholastic and athletic competence; their parents were more likely to enco...

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