The objective of this study is to present treatment of fibular hemimelia along with the complications, results, and an algorithm for treatment indications on the basis of authors' experience. A group of 31 patients was studied. In patients fulfilling the criteria for amputation, Syme's amputation should be performed. Elongation should be performed in case of type IA or IB fibular hemimelia, with a functional foot with more than three rays, leg shortening less than 5 cm at birth, and less than 10 cm at 9 years of life. The combination of epiphysiodesis with elongation produces the best outcome and is best accepted by the patients.

Background: Although Fassier-Duval (FD) rods have been used for almost 2 decades, knowledge of factors predisposing to their failure is limited. Thus, the purpose of this study was to: (1) present the most common complications of FD rodding, (2) present tips on how to avoid or overcome them, and (3) identify factors predisposing to treatment failure. Methods: Fifty-eight rod segments in 19 patients with osteogenesis imperfecta (mainly type III) underwent analysis with a median follow-up (FU) time of 4.4 years. We assessed the total number of complications clinically and radiographically. Next, the possible predisposing factors leading to failure were assessed using the Mann-Whitney U test. In addition, we evaluated the cutoff age for the increased rate of complications using the Youden index. A P<0.05 was considered significant. Results: The total number of complications reached 44.8%. The most common complications included: migration of the male or female implant (45.7% and 25.7% out of the total number of complications, respectively), bone fracture with bending of the rod (8.6%), and rotational deformities (8.6%). Significant differences in patients’ ages at the time of surgery were found between the group with and without complications (P=0.04), while sex, segment treated, preceding surgeries, length of FU, FD rod diameter, and length of bisphosphonate treatment were not significant. The Youden index showed that the risk of complications rose significantly in patients treated when younger than 5.5 years of age (P<0.05). Conclusions: This series displays the effectiveness and utility of FD rods at a median FU of over 4 years. Complication rates were comparable with the existing literature, with a notable increase in the number of side effects observed in younger patients (below the age of 5). Level of Evidence: Level IV—therapeutic study.

We report on monozygotic twins with short stature and severe spondyloepimetaphyseal dysplasia congenita (SEMDC) from the Polish population. Phenotype of the twin girls resembles spondyloepiphyseal dysplasia congenita Spranger-Wiedemann (SEDC-SW), but shortening of the stature is more severe and the cranioface is normal. The distinctive radiographic features, in spite of similarity to SEDC-SW, indicate different spinal and, notably, severe metaphyseal involvement. Molecular analysis of the COL2A1 gene revealed an A to G transition at nucleotide þ79 of exon 41 that converted the codon for arginine at amino acid 792 to a codon for glycine (Arg792Gly). The twins were heterozygous for the mutation and neither parent had this change. The Arg792Gly substitution is located at the Y-position of Gly-X-Y triplet, and it is likely that this substitution decreased the thermal stability of the triple helix and may affect fibril growth by replacement of an arginine residue, which is important for a conformation of the triple helix.

No abstract

No abstract