Gustilo-Anderson type III tibial fractures have poor functional outcomes in patients over 75 years.

BACKGROUND: Previous outcome studies in open tibial fractures have commonly assessed young patients and there is a paucity of data regarding outcomes in the elderly. The aim of this study is to assess functional outcomes for patients over 75 years with Gustilo-Anderson Grade III open tibial fractures, including mobility and residential status. METHODS: Outcomes for all patients over 75 years admitted with grade III open tibial fractures to a UK level 1 trauma centre during a 5-year period (January 2010-May 2015) were analysed. Long-term follow up of surviving patients (median 44 months post injury) was undertaken in February 2016. RESULTS: Twenty-nine patients (24 female, 5 male - median 85 years) were included. Prior to injury 48% (n = 14) patients were independently mobile and 45% (n = 13) were living at home without care. Two-thirds of injuries were low energy; all patients sustained a grade III open tibial fracture. The 12-month mortality rate was 28% (n = 8) and mortality at long-term follow-up 48% (n = 14). From pre-injury to long-term 8% (n = 1) patients did not change mobility status, 75% (n = 9) reduced by one grade (e.g. independent to walking aid) and 16% (n = 2) by two grades. Fifty eight percent (n = 7) of patients retained residential status, 17% (n = 2) reduced by one grade and 25% (n = 3) by two grades. CONCLUSION: Grade III open tibial fractures are a significant injury in the elderly associated with poor outcomes with respect to return to mobility and pre-injury residential status. Our results suggest that a greater emphasis on intensive rehabilitation should be considered in this patient group.

The fibroblast growth factor receptor 2 p.Ala172Phe mutation in Pfeiffer syndrome--history repeating itself.

Pfeiffer syndrome is an autosomal dominant condition classically combining craniosynostosis with digital anomalies of the hands and feet. The majority of cases are caused by heterozygous mutations in the third immunoglobulin-like domain (IgIII) of FGFR2, whilst a small number of cases can be attributed to mutations outside this region of the protein. A mild form of Pfeiffer syndrome can rarely be caused by a specific mutation in FGFR1. We report on the clinical and genetic findings in a three generation British family with Pfeiffer syndrome caused by a heterozygous missense mutation, p.Ala172Phe, located in the IgII domain of FGFR2. This is the first reported case of this particular mutation since Pfeiffer's index case, originally described in a German family in 1964, on which basis the syndrome was eponymously named. Genetic analysis demonstrated the two families to be unrelated. Similarities in phenotypes between the two families are discussed. Independent genetic origins, but phenotypic similarities in the two families add to the evidence supporting the theory of selfish spermatogonial selective advantage for this rare gain-of-function FGFR2 mutation.