The eye as an organizer of craniofacial development

The formation and invagination of the optic stalk coincides with the migration of cranial neural crest (CNC) cells, and a growing body of data reveals that the optic stalk and CNC cells communicate to lay the foundations for periocular and craniofacial development. Following migration, the interaction between the developing eye and surrounding periocular mesenchyme (POM) continues, leading to induction of transcriptional regulatory cascades that regulate craniofacial morphogenesis. Studies in chick, mice, and zebrafish have revealed a remarkable level of genetic and mechanistic conservation, affirming the power of each animal model to shed light on the broader morphogenic process. This review will focus on the role of the developing eye in orchestrating craniofacial morphogenesis, utilizing morphogenic gradients, paracrine signaling, and transcriptional regulatory cascades to establish an evolutionarily-conserved facial architecture. We propose that in addition to the forebrain, the eye functions during early craniofacial morphogenesis as a key organizer of facial development, independent of its role in vision. genesis 49:222–230, 2011. © 2011 Wiley-Liss, Inc.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/83761/1/20716_ftp.pd

Guideline for Care of Patients with the Diagnoses of Craniosynostosis: Working Group on Craniosynostosis

This guideline for care of children with craniosynostosis was developed by a national working group with representatives of 11 matrix societies of specialties and the national patients' society. All medical aspects of care for nonsyndromic and syndromic craniosynostosis are included, as well as the social and psychologic impact for the patient and their parents. Managerial aspects are incorporated as well, such as organizing a timely referral to the craniofacial center, requirements for a dedicated craniofacial center, and centralization of this specialized care. The conclusions and recommendations within this document are founded on the available literature, with a grading of the level of evidence, thereby highlighting the areas of care that are in need of high-quality research. The development of this guideline was made possible by an educational grant of the Dutch Order of Medical Specialists. The development of this guideline was supported by an educational grant of the Dutch Order of Medical Specialists

The cardiofaciocutaneous syndrome

The cardiofaciocutaneous (CFC) syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation. It is characterised by failure to thrive, relative macrocephaly, a distinctive face with prominent forehead, bitemporal constriction, absence of eyebrows, hypertelorism, downward- slanting palpebral fissures often with epicanthic folds, depressed nasal root and a bulbous tip of the nose. the cutaneous involvement consists of dry, hyperkeratotic, scaly skin, sparse and curly hair, and cavernous haemangiomata. Most patients have a congenital heart defect, most commonly pulmonic stenosis and hypertrophic cardiomyopathy. the developmental delay usually is moderate to severe. the syndrome is caused by gain-offunction mutations in four different genes BRAF, KRAS, mitogen- activated protein/ extracellular signal-regulated kinase MEK1 and MEK2, all belonging to the same RAS extracellular signal- regulated kinase ( ERK) pathway that regulates cell differentiation, proliferation and apoptosis. the CFC syndrome is a member of a family of syndromes that includes the Noonan and Costello syndromes, presenting with phenotypic similarities. Noonan syndrome is caused by mutations in the protein tyrosine phosphatase SHP- 2 gene ( PTPN11), with a few people having a mutation in KRAS. Costello syndrome is caused by mutations in HRAS. the protein products of these genes also belong to the RAS - ERK pathway. Thus, the clinical overlap of these three conditions, which often poses a problem of differential diagnosis, is explained by their pathogenetic relatedness.Univ Sacred Heart, Inst Med Genet, Fac Med, I-00168 Rome, ItalyDuke Univ, Med Ctr, Dept Ophthalmol, Durham, NC 27705 USADuke Univ, Med Ctr, Dept Pediat, Durham, NC 27705 USAUniv Utah, Sch Med, Dept Pediat, Salt Lake City, UT USAUniv Kentucky, Dept Pediat, Lexington, KY USAUniversidade Federal de São Paulo, São Paulo, BrazilUniv Penn, Sch Med, Philadelphia, PA 19104 USAUniv Ottawa, Ottawa, ON, CanadaChildrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, CanadaHarvard Univ, Sch Med, Partners Healthcare Syst, Ctr Genet & Genom, Boston, MA 02115 USAUniversidade Federal de São Paulo, São Paulo, BrazilWeb of Scienc