Disease relevance of Craniofacial Dysostosis

• Crouzon craniofacial dysostosis (CFD) is an autosomal dominant form of craniosynostosis characterized by an abnormal skull shape, with hypertelorism, prominent eyes and midfacial retrusion [1].
• A unique type of craniofacial dysostosis, Crouzon syndrome with acanthosis nigricans (CAN), has been attributed to a specific substitution (Ala391Glu) in the fibroblast growth factor receptor 3 (FGFR3) gene [2].
• Despite earlier hopes, this surgery did not result in the development of satisfactory occlusal relationships and midfacial form in the craniofacial dysostosis group (Crouzon's, Apert's, etc.). Based on this clinical experience, a surgical treatment plan is presented for the newborn with craniofacial synostosis [3].
• Four patients had Crouzon's disease with coronal suture stenosis [4].
• Seven patients with craniosynostosis (mean age 8 years, Apert syndrome, n = 4, Crouzon's disease, n = 3) underwent lengthening of the skull by gradual bone distraction [5].

Psychiatry related information on Craniofacial Dysostosis

• The main clinical features are multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation [6].

High impact information on Craniofacial Dysostosis

• In contrast, a broad range of mutations throughout the extracellular domain of FGFR2 causes the overlapping cranial phenotypes of Pfeiffer and Crouzon syndromes and related craniofacial dysostoses [7].
• Strabismus in craniofacial dysostosis [8].
• 3D CT clearly depicted malformations of the skull base involving the petrous bone in seven patients (four cases of Goldenhar-Gorlin syndrome, one case of Treacher-Collins syndrome and two cases of Crouzon's disease) [9].
• The patients treated by this technique between 1973 and 1993 consisted of 41 with unilateral coronal synostosis, 13 with trigonocephaly and 29 with craniofacial dysostosis [10].
• Treatment of obstructive sleep apnoea using nasal CPAP in children with craniofacial dysostoses [11].

Anatomical context of Craniofacial Dysostosis

• These findings suggest that low FGF receptor 2 activity in cranial sutures correlates with Crouzon's disease [4].

Gene context of Craniofacial Dysostosis

• Some results from our stereometric studies of patients with cleft lip and palate, hemifacial microsomia, craniofacial dysostosis (Crouzon syndrome) and dysgnathia are presented [12].

Analytical, diagnostic and therapeutic context of Craniofacial Dysostosis

• We performed a retrospective study of 107 consecutive patients with syndromic forms of craniosynostosis (craniofacial dysostosis) seen by the craniofacial team at the Hospital for Sick Children between 1986 and 1992 [13].

References