Craniofacial and dental development in cardio‐facio‐cutaneous syndrome: the importance of Ras signaling homeostasis

Cardio‐facio‐cutaneous syndrome (CFC) is a RASopathy that is characterized by craniofacial, dermatologic, gastrointestinal, ocular, cardiac, and neurologic anomalies. CFC is caused by activating mutations in the Ras/mitogen‐activated protein kinase (MAPK) signaling pathway that is downstream of receptor tyrosine kinase (RTK) signaling. RTK signaling is known to play a central role in craniofacial and dental development, but to date, no studies have systematically examined individuals with CFC to define key craniofacial and dental features. To fill this critical gap in our knowledge, we evaluated the craniofacial and dental phenotype of a large cohort (n = 32) of CFC individuals who attended the 2009 and 2011 CFC International Family Conferences. We quantified common craniofacial features in CFC which include macrocephaly, bitemporal narrowing, convex facial profile, and hypoplastic supraorbital ridges. In addition, there is a characteristic dental phenotype in CFC syndrome that includes malocclusion with open bite, posterior crossbite, and a high‐arched palate. This thorough evaluation of the craniofacial and dental phenotype in CFC individuals provides a step forward in our understanding of the role of RTK/MAPK signaling in human craniofacial development and will aid clinicians who treat patients with CFC.     

Reliability of limb alignment measurement for high tibial osteotomy with a navigation system

Objective

High tibial osteotomy (HTO) is one treatment option for young and active patients with unicompartmental osteoarthritis. The success of this procedure substantially depends on the degree of correction of the mechanical axis. Computer-assisted navigation systems are believed to improve the precision of axis correction through intraoperative real-time monitoring. This study investigates the accuracy of limb alignment measurements with a navigation system on a cadaver specimen.

Materials and methods

The measurements were performed on a well-preserved cadaver specimen with a mechanical leg axis of 4° varus. Data was collected during the HTO workflow. Repeated serial measurements were undertaken by four different surgeons. After these measurements, different landmarks were deliberately set at the wrong place to examine the influence of mistakes during registration.

Results

There was a high intra-and interobserver reliability with a mean mechanical leg axis of 3.9° ± 0.7° and a mean error of 0.6°. The grossly incorrect placement of landmarks for knee and ankle center resulted in an incorrect mechanical leg axis of 1° valgus up to 10° varus.

Conclusion

The computer-assisted navigation system provided precise information about the mechanical leg axis, irrespective of the observer''s experience.