RESUMO
A boy and his father with severe short stature, progressively evolving body asymmetry, and skeletal abnormalities are presented. A next-generation sequencing exome study was performed, and the patient was found heterozygous for the c.1609G>A (p.Gly537Ser) mutation in the COL2A1 gene. This mutation is considered a pathogenic variant and has been previously registered in the Human Gene Mutation Database (HGMD) in association with spondyloepiphyseal dysplasia (accession: CM052184). It has been described in a patient as a sporadic case and resulted in a severe phenotype. Segregation studies, in order to determine the inheritance pattern, identified the same mutation in our patient's father. The variant was transmitted in an autosomal dominant pattern. In conclusion, we describe a patient with hereditary spondyloepiphyseal dysplasia congenita, caused by a c.1609G_A (p.Gly537Ser) mutation in the COL2A1 gene, which resulted in a milder phenotype.
RESUMO
PURPOSE: To compare longitudinal growth and cam deformity of the proximal femur after treatment for slipped capital femoral epiphysis (SCFE) with one screw versus two smooth pins. METHODS: We studied 43 patients (29 males, 14 females; mean age, 12.1 years; range, 9.5-14 years) with idiopathic unilateral SCFE treated with in situ fixation with one cannulated screw (group A, n = 23) or two smooth pins (group B, n = 20). Anteroposterior and frog-leg radiographs of the pelvis were evaluated for each patient at initial presentation, post-operatively and at physeal closure. Longitudinal growth was evaluated using the femoral neck length (FNL), the caput-collum-diaphyseal (CCD) angle, and the articulo-trochanteric distance (ATD). Cam deformity was assessed using the anterior offset α-angle and the head-neck offset ratio (HNOR). The mean follow-up was 5.1 years (range, 4-7 years). RESULTS: Postoperatively, the mean CCD angle was 138.3°, the mean α-angle was 66.1° and the mean HNOR was - 0.030. At physeal closure, mean CCD angle significantly decreased to 133.6°, mean α-angle significantly reduced to 52.1°, and mean HNOR significantly improved to + 0.039. CCD, FNL, ATD, α-angle, and HNOR were not different between groups. CONCLUSIONS: One screw or two smooth pins result in similar longitudinal growth and deformity of the proximal femur after SCFE. The femoral head-neck junction remarkably improves until physeal closure; however, residual cam deformity is not avoided after in situ pinning. The complication rate with smooth pins is higher.
