Revisiting Crouzon syndrome: reviewing the background and management of a multifaceted disease

Abstract

Mutations in the FGFR2 are responsible for 50 % of mutations within this multifaceted syndrome. Crouzon syndrome is an autosomal dominant disorder with a number of distinguishing characteristics, including craniosynostosis, maxillary hypoplasia, exophthalmos, and multiple other features. Early intervention, both medically and surgically, as well as disciplined follow-up with the pediatric provider are crucial to the management of this disorder. In particular, management should address cranial suture release, midfacial advancement, evaluation for hearing deficits, and obstructive sleep apnea, with expedient intervention for airway compromise and increased intracranial pressure.

Mutation c.943G>T (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family

“…Compared to the syndromic craniosynostosis associated with FGFR2 mutations, isolated unilateral or bilateral coronal synostosis present the mild end of the phenotypic spectrum associated with FGFR2 [Helman et al, 2014]. In the family described here, none of the members needed neurosurgical intervention, and there is no morphological hint of a brachy-or plagiocephaly.…”

The characteristics of craniofacial and cervicovertebral morphology in different genetic syndromes: A literature review and three case reports

“…In general, it is a multidisciplinary approach that requires a myriad of surgical, medical and psychosocial interventions. 13 Early treating of Crouzon syndrome usually starts in early infancy with treatment of prioritizes including airway management and offsetting elevated intracranial pressure. It is recommended to perform the craniosynostectomy at 3-6 month of age to allow for remodeling and reshaping of the cranial cavity.…”

“…76 Later interventions are tailored toward management of obstructive sleep apnea, malocclusion, speech and language pathology evaluation and consultation with psychological counselors. 13 The dental management of individuals with CCD is challenging and involves comprehensive orthodontic and surgical treatments. 19 The four main therapeutic approaches reported in the literature are the Toronto-Melbourne, Belfast-Hamburg, Jerusalem, and Bronx methods.…”

“…12 Mutations within these genes cause premature conversion of fibrous suture lines to permanent osseous bone matrix. 13 Furthermore, these mutations affect the outcome of the first branchial arch development that is essential for normal craniofacial growth. 10 Cleidocranial dysplasia (CCD), also known as cleidocranial dysostosis or Marie-Sainton syndrome is an uncommon (1:1.000.000) genetic skeletal condition that is inherited as an autosomal dominant disorder.…”

Craniosynostosis Syndromes: Genetics to Imaging

“…5). [29][30][31][32][33] Saethre-Chotzen syndrome, or ACS III, is typically caused by loss-of-function mutations of twist-related protein 1 (TWIST1, 7p21.1-21.2), which is a basic helix-loop-helix transcription factor. A craniofacial phenocopy has been described with the FGFR2 mutation Q289P (p.Gln289Pro) and normal TWIST1 sequence analysis.…”