Patients with pseudoachondroplasia have complex, difficult to correct deformities including angular deformity, rotational deformity, and ligament laxity. We retrospectively reviewed seven patients (two children, five adults) with 26 segmental deformities (12 femora, 14 tibiae). We performed bilateral femoral and tibial osteotomies in six patients and bilateral tibial osteotomies in one patient. Distraction osteogenesis was used in 20 segments and acute deformity correction was done in six segments. External fixation was applied to all segments. Of 26 segments, there were five good, 12 fair, and nine poor radiographic results with nine major and 12 minor complications. Recurrent deformity in children and refracture in adults were related to poor results. Of 14 limbs, there were four good, five fair, and five poor clinical results with five major and 14 minor complications. Knee stiffness was the most common complication related to poor results in our series, and occurred particularly in patients with simultaneous correction of the ipsilateral tibial and femoral deformities. Therefore, two-stage surgery including bilateral tibial osteotomies first and then bilateral femoral osteotomies is recommended instead of simultaneous correction of the ipsilateral tibial and femoral deformities to avoid knee stiffness.
[Show abstract][Hide abstract] ABSTRACT: Options for lower limb realignment in skeletal dysplasia are acute versus gradual correction, internal versus external fixation, and external fixation with or without intramedullary nailing. The safety and versatility of the Ilizarov method in skeletal dysplasia patients makes it a procedure of choice.
We describe here our experience with this procedure with 48 skeletal dysplasia patients, with a mean age of 15 years, and a minimum follow-up of 2 years. Preoperative, postoperative, and latest follow-up measurements of tibia-femur (T-F) angle, conventional mechanical axis deviation (MAD-C), ground mechanical axis deviation (MAD-G), lateral distal femoral angle (LDFA), medial proximal tibial angle (MPTA), posterior distal femoral angle (PDFA), and posterior proximal tibial angle (PPTA) were compared.
The mean lengthening amount (LA) was 7.4 cm, mean lengthening percentage (LP) was 35.5%, mean external fixation index (EFI) was 28 days/cm, and mean healing index (HI) was 35 days/cm. Mean MAD-C and MAD-G correction were 9.3 mm and 11.8 mm, respectively. T-F angles, PPTA, MAD-C, and MAD-G were significantly improved. Equinus deformity was the most prominent obstacle, and varus recurrence was the most frequent sequela.
In most skeletal dysplasia patients, lower limb realignment with gradual deformity correction using the Ilizarov method may be a reliable option. Equinus deformity occurs in those with more than 40% lengthening, but can be easily corrected. In addressing varus recurrence after gradual correction, the intrinsic and extrinsic factors should be sought first then treated accordingly.
[Show abstract][Hide abstract] ABSTRACT: This historical report focuses on the first clinical description of pseudoachondroplasia and its radiographic findings. Only half a century ago, pseudoachondroplasia was recognized as a genetic disorder with a distinct but variable phenotype of short stature, normal facial features, and progressive joint problems starting in adolescence. Radiologically, the disease is particularly intriguing because the patients appear normal at birth. The patients develop the typical gait disturbances when they begin to walk. Radiographs show the characteristic anterior tongue-shaped lumbar vertebral body changes that develop after the first year of life. This account presents the most well-known group of individuals affected by pseudoachondroplasia, the Ovitz family, who narrowly escaped death in the concentration camp of Auschwitz in 1944 because of SS physician Dr. Josef Mengele's fascination with dwarfs. It was not until 1995 that the underlying genetic defect in the COMP gene was identified on chromosome 19.
[Show abstract][Hide abstract] ABSTRACT: The modalities and results of surgical intervention in the lower extremity in children with Morquio syndrome type A [mucopolysaccharidosis-IV (MPS-IVA)] have not been well described. The aims of this study are to define the lower extremity deformities, and describe the results of intervention in MPS-IVA patients.
Retrospective chart and radiograph review of 23 MPS-IVA patients with a minimum follow-up of >2 years. Patients were divided into no intervention and surgical groups. Demographic data, surgical details, clinical results, and complications were recorded. Standard lower extremity radiographic measurements made on standing radiographs at initial presentation, preoperatively (in surgical group), and at the final follow-up were used to study the deformities and effects of hip, knee, and ankle surgery. Descriptive statistics were performed.
There were 11 boys and 12 girls. The average age at presentation was 6.8±3.4 years and at the last visit was 13.5±5 years with a mean follow-up of 6.7±3.7 years. Progressive hip subluxation, genu valgum, and ankle valgus were observed in all patients without intervention. Twenty patients had a total of 159 lower extremity surgical procedures (average, 8 procedures per patient). There were 61 hip, 78 knee, and 20 ankle procedures. Surgery resulted in improvement of the center edge angle, femoral head coverage, lateral distal femoral angle, medial proximal tibial angle, tibiofemoral angle, and lateral distal tibial angle. Mechanical axis of the lower extremities improved after intervention. Six patients (12 hips) had recurrence of hip subluxation after acetabular osteotomies and/or femoral varus derotation osteotomy, and 8 patients (16 knees) had postoperative genu valgum recurrence requiring subsequent intervention. There was no recurrent hip subluxation after shelf acetabuloplasty.
Progressive hip subluxation, genu valgum, and ankle valgus were seen and often needed surgery. After shelf acetabuloplasty and varus derotation osteotomy, there was no recurrent hip subluxation. Recurrence after genu valgum correction was common.
Level IV, therapeutic case series.
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