A novel external fixator used to treat open comminuted fractures of the middle and distal phalanges with concomitant FDP avulsion injury.

The use of external fixators for treating comminuted hand fractures has become popular with commercially available or handmade fixators assembled in the operating theater. We present a case of a Zone I flexor digitorum profundus (FDP) avulsion fracture that was complicated by the presence of open, comminuted fractures of the distal and middle phalanges. The injury was treated using an external fixator constructed in the operating theater from readily available materials and with a 4-strand pullout suture technique tied over a button to repair the FDP avulsion. This technique facilitated treatment of the comminuted and contaminated fractures while allowing reconstruction of the Zone I FDP injury and allowing relatively early mobilization of the FDP repair.

Experience of an orthoplastic limb salvage team after the Haiti earthquake: analysis of caseload and early outcomes.

BACKGROUND: After the devastating earthquake in Haiti on January 12, 2010, a British orthoplastic limb salvage team was mobilized. The team operated in a suburb of Port-au-Prince from January 20, 2010. This analysis gives an overview of the caseload and early outcomes. METHODS: A retrospective analysis of operative data from the log book was performed from the opening of the facility on January 20, 2010, until March 12, 2010. RESULTS: In total, 348 operations were carried out on 158 patients, at an average of 47 cases per week. Seventy-three percent of the cases were soft-tissue cases and 25 percent were bony or combined soft-tissue and bony cases. The majority of bony procedures (n = 26; 16 percent) and flap procedures (n = 16; 10 percent) took place in the early weeks (weeks 1 through 4). Combined orthoplastic cases accounted for 37 percent of cases (16 of 44) in week 2 but only 7 percent (three of 43) in week 7. General anesthetic cases accounted for 89 percent of cases (39 of 44) in week 2 but only 40 percent (17 of 43) in week 7. Only six patients (4 percent) underwent amputation, but 36 operations (10 percent) dealt with the sequelae of amputation. Sixteen patients (10 percent) suffered complications, including two amputations for failed limb salvage. CONCLUSIONS: This article reports the outcomes of a limb salvage team in the acute response after an earthquake disaster with a favorable amputation rate and highlights the potential benefit of mobilizing this type of team. Detailing the changing caseload over time will allow for more efficient planning in case of a similar future disaster.

Clinical dividends from the molecular genetic diagnosis of craniosynostosis.

A dozen years have passed since the first genetic lesion was identified in a family with craniosynostosis, the premature fusion of the cranial sutures. Subsequently, mutations in the FGFR2, FGFR3, TWIST1, and EFNB1 genes have been shown to account for approximately 25% of craniosynostosis, whilst several additional genes make minor contributions. Using specific examples, we show how these discoveries have enabled refinement of information on diagnosis, recurrence risk, prognosis for mental development, and surgical planning. However, phenotypic variability can present a significant challenge to the clinical interpretation of molecular genetic tests. In particular, the difficulty of analyzing the complex interaction of genetic background and prenatal environment in determining clinical features, limits the value of identifying low penetrance mutations.

Surgical interventions for the treatment of radiation-induced alopecia in pediatric practice.

Permanent alopecia can occur following treatment for pediatric malignant disease, especially cranial irradiation, resulting in identity and self-image problems. This late effect is usually addressed through external cosmesis and psychological adjustment. Surgical options are less commonly utilized. The experience of reconstructive procedures in patients at RLC NHS Trust, Alder Hey with alopecia is presented. Four patients had scalp tissue expansion and one had hair transplantation. The reconstructive options available are discussed as well as the potential opportunities and difficulties in this population. Post-radiotherapy alopecia can be successfully addressed by reconstructive surgery, and should be considered more often in this population.

Clinical dividends from the molecular genetic diagnosis of craniosynostosis.

A dozen years have passed since the first genetic lesion was identified in a family with craniosynostosis, the premature fusion of the cranial sutures. Subsequently, mutations in the FGFR2, FGFR3, TWIST1, and EFNB1 genes have been shown to account for approximately 25% of craniosynostosis, whilst several additional genes make minor contributions. Using specific examples, we show how these discoveries have enabled refinement of information on diagnosis, recurrence risk, prognosis for mental development, and surgical planning. However, phenotypic variability can present a significant challenge to the clinical interpretation of molecular genetic tests. In particular, the difficulty of analyzing the complex interaction of genetic background and prenatal environment in determining clinical features, limits the value of identifying low penetrance mutations.

Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis.

Muenke syndrome, also known as FGFR3-associated coronal synostosis, is defined molecularly by the presence of a heterozygous nucleotide transversion, c.749C>G, encoding the amino acid substitution Pro250Arg, in the fibroblast growth factor receptor type 3 gene (FGFR3). This frequently occurs as a new mutation, manifesting one of the highest documented rates for any transversion in the human genome. To understand the biology of this mutation, we have investigated its parental origin, and the ages of the parents, in 19 families with de novo c.749C>G mutations. All ten informative cases originated from the paternal allele (95% confidence interval 74-100% paternal); the average paternal age at birth overall was 34.7 years. An exclusive paternal origin of mutations, and increased paternal age, were previously described for a different mutation (c.1138G>A) of the FGFR3 gene causing achondroplasia, as well as for mutations of the related FGFR2 gene causing Apert, Crouzon and Pfeiffer syndromes. We conclude that similar biological processes are likely to shape the occurrence of this c.749C>G mutation as for other mutations of FGFR3 as well as FGFR2.

Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2.

The combination of skull defects in the form of enlarged parietal foramina (PFM) and deficient ossification of the clavicles is known as parietal foramina with cleidocranial dysplasia (PFMCCD). It is considered to be distinct from classical cleidocranial dysplasia (CCD) and is listed as a separate OMIM entry (168550). So far, only two families have been reported and the molecular basis of the disorder is unknown. We present a third family with PFMCCD, comprising four affected individuals in three generations, and demonstrate that a heterozygous tetranucleotide duplication in the MSX2 homeobox gene (505_508dupATTG) segregates with the phenotype. PFMCCD is indeed aetiologically distinct from CCD, which is caused by mutations in the RUNX2 gene, but allelic with isolated PFM, in which MSX2 mutations were previously identified. Our observations highlight the role of MSX2 in clavicular development and the importance of radiological examination of the clavicles in subjects with PFM.

Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.

It has been known for several years that heterozygous mutations of three members of the fibroblast growth-factor-receptor family of signal-transduction molecules-namely, FGFR1, FGFR2, and FGFR3-contribute significantly to disorders of bone patterning and growth. FGFR3 mutations, which predominantly cause short-limbed bone dysplasia, occur in all three major regions (i.e., extracellular, transmembrane, and intracellular) of the protein. By contrast, most mutations described in FGFR2 localize to just two exons (IIIa and IIIc), encoding the IgIII domain in the extracellular region, resulting in syndromic craniosynostosis including Apert, Crouzon, or Pfeiffer syndromes. Interpretation of this apparent clustering of mutations in FGFR2 has been hampered by the absence of any complete FGFR2-mutation screen. We have now undertaken such a screen in 259 patients with craniosynostosis in whom mutations in other genes (e.g., FGFR1, FGFR3, and TWIST) had been excluded; part of this screen was a cohort-based study, enabling unbiased estimates of the mutation distribution to be obtained. Although the majority (61/62 in the cohort sample) of FGFR2 mutations localized to the IIIa and IIIc exons, we identified mutations in seven additional exons-including six distinct mutations of the tyrosine kinase region and a single mutation of the IgII domain. The majority of patients with atypical mutations had diagnoses of Pfeiffer syndrome or Crouzon syndrome. Overall, FGFR2 mutations were present in 9.8% of patients with craniosynostosis who were included in a prospectively ascertained sample, but no mutations were found in association with isolated fusion of the metopic or sagittal sutures. We conclude that the spectrum of FGFR2 mutations causing craniosynostosis is wider than previously recognized but that, nevertheless, the IgIIIa/IIIc region represents a genuine mutation hotspot.