Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status.

BACKGROUND: Costello syndrome (CS) and cardio-facio-cutaneous syndrome (CFCS) belong to the RASopathies, a group of neurodevelopmental disorders with skeletal anomalies. Due to their rarity, the characterization of the musculo-skeletal phenotype in both disorders has been poorly characterized. PATIENTS AND METHODS: Herein we reported data on orthopedic findings and functional status of a large sample of CS and CFCS patients. Thirty-four patients (CS = 17 and CFCS = 17) were recruited. Functional and disability evaluations were performed by assessing the 6-min walking test (6MWT) and Pediatric Outcomes Data Collection Instrument (PODCI). Genotype/phenotype correlation was also provided. RESULTS: Orthopedic manifestations are highly prevalent in CS and CFCS and overlap in the two disorders. Overall, patients with CS harboring the recurrent HRAS Gly12Ser substitution show a more severe skeletal phenotype compared to patients carrying the Gly12Ala and Gly13Cys variants. Among CFCS patients, those with the MAP2K1/2 variant show different skeletal characteristics compared to BRAF variants, with a higher prevalence of orthopedic abnormalities. Functional assessment showed that patients with CS and CFCS reached lower values compared to the general population, with CFCS patients displaying the lowest scores. CONCLUSIONS: Orthopedic manifestations appear universal features of CS and CFCS and they can evolve across patients' life. Longitudinal assessment of disability status by using 6MWT and PODCI could be useful to evaluate the functional impact of orthopedic manifestations on patients' outcome and help planning a tailored treatment of these comorbidities.

Titanium elastic nailing in diaphyseal femoral fractures of children below six years of age.

AIM: To report the clinical and radiographic results of titanium elastic nail (TEN) in diaphyseal femoral fractures of children below age of six years. METHODS: A retrospective analysis of 27 diaphyseal femoral fractures in children younger than six years treated with TEN between 2005 and 2015 was conducted. Patients were immobilized in a cast for 5 wk and the nails were removed from 6 to 12 wk after surgery. Twenty-four cases were clinically and radiographically re-evaluated using the Flynn's scoring criteria, focusing on: Limb length discrepancy, rotational deformity, angulation, hip and knee range of motion (ROM), functional status, complications, and parent's satisfaction. RESULTS: Sixteen males and eight females with a mean age of 3.2 years at the time of treatment were re-evaluated at an average follow-up of 58.9 mo. No cases of delayed union were observed. The mean limb lengthening was 0.3 cm. Four cases experienced limb lengthening greater than 1 cm and always minor than 2 cm. Twelve point five percent of the cases showed an angulation < 10°. Complete functional recovery (hip and knee ROM, ability to run and jump on the operated limb) occurred in 95.7% of cases. Complications included two cases of superficial infection of the TEN entry point, one case of refracture following a new trauma, and one TEN mobilization. According to the Flynn's scoring criteria, excellent results were obtained in 79.2% of patients and satisfactory results in the remaining 20.8%, with an average parent's satisfaction level of 9.1/10. CONCLUSION: TEN is as a safe, mini-invasive and surgeon-friendly technique and, considering specific inclusion criteria, it represents a useful and efficacy option for the treatment of diaphyseal femoral fractures even in patients younger than six years of age.