Craniofacial Syndromes

Abstract

Craniofacial syndromes fall into two major categories-those associated with craniosynostosis, and those associated with clefts. Each has a different set of potential complications requiring a unique approach for surgical management. Craniosynostosis is a congenital disorder in which one or more of the cranial sutures fuses prematurely. The most common syndromes associated with this condition include Crouzon, Apert, Pfeiffer, Muenke, and Saethre-Chotzen syndromes. Surgical management of these children requires a multidisciplinary approach and close involvement of the family. Operations must take into consideration the growing potential of the bony structures. Common syndromes associated with clefts include Pierre Robin, Treacher Collins, Nager, Binder, and Stickler syndromes. Many of these children have severe airway issues requiring immediate address before operative reconstruction. As with syndromes associated with craniosynostosis, the key to management is a multidisciplinary approach focused on the right timing. The purpose of this article is to review the clinical presentation, care, and treatment of these patients.

Cigarette smoke induces proteasomal-mediated degradation of DNA methyltransferases and methyl CpG-/CpG domain-binding proteins in embryonic orofacial cells

“…Thus, both the upper lip and the palate develop from cells derived from the first branchial arch. While a wide range of genetic and environmental factors can adversely affect formation of the lip or palate [5], maternal cigarette smoking [6–10], as well as passive smoking during pregnancy [11–13], has been well documented as risk factors for orofacial clefting. Studies have also documented abnormal mandibular development following prenatal cigarette smoke exposure [14].…”

Syndromic Craniosynostosis: Complexities of Clinical Care

“…The present incidence is estimated between 1: 100,000 and 160,000 live births [Buchanan et al, 2014]. Apert syndrome results from a gain-of-function mutation Ser252Trp (66%) or Pro253Arg (33%) to the FGFR2 gene coding for a tyrosine kinase.…”

“…Presenting as one of the most frequent syndromes, SCS has a described incidence of 1 in 25,000-50,000 [Buchanan et al, 2014]. It results from the loss-of-function mutations in TWIST1 , which are inherited in an autosomal dominant pattern [Howard et al, 1997;Johnson et al, 1998].…”

36 Pediatric Skull Base

“…Two major categories can be distinguished: those associated with craniosynostoses and those associated with cleft. 56 The most common syndromes associated with craniosynostoses are Crouzon, Apert, Pfeiffer, Muenke, and Saethre-Chotzen syndromes. The most common syndromes associated with clefts are Pierre Robin, Treacher Collins, Nager, Binder, and Stickler syndromes.…”