Although autosomal recessive HSP represents a heterogeneous group of diseases, some phenotypes can be defined by analyzing a large group of patients. The fact that only one Algerian family was linked to chromosome 8 suggests that this is a rare localization even in kindreds with the same ethnic background. Linkage to chromosome 16 was found in 2 clinically diverse Portuguese kindreds, illustrating that this locus is also rare and may correspond to different phenotypes.
The Ponseti method is reportedly effective for treating clubfoot in children up to 9 years of age. However, whether age at the beginning of treatment influences the rate of successful correction and the rate of relapse is unknown. We therefore retrospectively reviewed 68 consecutive children with 102 idiopathic clubfeet treated by the Ponseti technique in four Portuguese hospitals. We followed patients a minimum of 30 months (mean, 41.4 months; range, 30-61 months). The patients were divided into two groups according to their age at the beginning of treatment; Group I was younger than 6 months and Group II was older than 6 months. All feet (100%) were initially corrected and no feet required extensive surgery regardless of age at the beginning of treatment. There were no differences between Groups I and II in the number of casts, tenotomies, success in terms of rate of initial correction, rate of recurrence, and rate of tibialis anterior transference. The rate of the Ponseti method in avoiding extensive surgery was 100% in Groups I and II; relapses occurred in 8% of the feet in younger and older children.
PurposeThe aim of this study was to elucidate developmental dysplasia of the hip (DDH) diagnosis and treatment preferences among members of the Pediatric Orthopaedic Society of North America (POSNA) and European Paediatric Orthopaedic Society (EPOS).MethodsA 54-question survey on DDH diagnosis and treatment preferences was distributed to POSNA and EPOS members. Descriptive statistics were performed.ResultsA total of 459 responses were analyzed. Ultrasound was the preferred modality for diagnosing DDH in infants less than six months old; few surgeons preferred radiographs. In all, 57% of POSNA members had radiology technicians perform ultrasounds, only 7% of EPOS members did. The percent coverage defining a dislocated hip varied greatly, the most frequent response being < 20% for POSNA and < 40% for EPOS members. Pavlik harnesses were the most popular harness/brace, used by 90% of POSNA and 71% of EPOS members. POSNA members were more likely than EPOS members to use a rigid abduction brace following initial harness/brace failure. For residual acetabular dysplasia, POSNA members were twice as likely as EPOS members to institute hip abduction bracing. Most surgeons would not perform closed reduction at less than three months of age or open reduction at less than six months of age. Most EPOS members used traction prior to reduction; few POSNA members did. Few POSNA and EPOS members believed that reduction should be delayed until the ossific nucleus was visible.ConclusionThere is great variation in the preferred methods for diagnosing and treating DDH. This survey is the largest transcontinental survey to compile diagnostic and treatment preferences for DDH. With wide variations in practice, there is room for quality improvement.Level of Evidence II
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