Corrections of diverse forms of lower limb deformities in patients with mucopolysaccharidosis type IVA (Morquio syndrome).

BACKGROUND: Thoracolumbar kyphosis has been considered as the first presenting deformity and is often a key diagnostic clue noted in children with mucopolysaccharidosis (MPS) type IV (Morquio's syndrome). However, we observed that the progressive irregularities of the epiphyses of the long bones were the most prominent skeletal pathology, causing effectively the development of diverse forms of lower limbs deformities with extreme variation in age of onset. MATERIALS AND METHODS: Ten patients (seven children and three adults) with an average age of 15 years have been enrolled in this study. Age of diagnosis of MPS IVA has a variable age of onset and a MISLEADING rate of severity. Hip dislocations, genu valgum, protrusio acetabuli and osteoarthritis were the most common lower limbs deformities in these patients. Clinical and radiographic phenotypes were the baseline tools of documentation. Urinary screening and genotypic characterizations have been applied accordingly. RESULTS: Combined pelvic and femoral procedures for hip dislocation, epiphysiodeses and supracondylar osteotomy for genu valgum and hip arthroplasty for protrusio acetabuli have been performed. All patients manifested insufficient activity of N-acetylgalactosamine-6-sulphate sulphatase, an enzyme that degrades keratin sulphate and chondroitin-6 sulphate. CONCLUSION: The extensive clinical heterogeneity contributed significantly in the delay in establishing the diagnosis particularly in adult patients with MPS IV. The epiphyseal irregularities of the long bones and the progressive flattening pathology of MPS IV A were the reason to falsely diagnose some patients as spondyloepiphyseal dysplasia congenital and/or tarda. Proximal femoral osteotomy, realignment osteotomy and total hip arthroplasty have been performed for coxa vara, genu valgum and protrusio acetabuli, respectively, in children and adult group of patients. The importance of early diagnosis on MPS IV A is to receive enzyme replacement therapy and plan for other therapeutic measures.

Congenital contractures and distinctive phenotypic features consistent with Stuve-Wiedmann syndrome in a male infant.

INTRODUCTION: Expressionless face associated with multiple contractures has been encountered in an infant. There is a wide range of misconception regarding the categorization of children with multiple contractures among different pediatric disciplines. The fundamental element in categorizing children with multiple contractures is "the etiological understanding". In the absence of concomitant neuromuscular disease, however, the search for other reasons is mandatory. Our present paper signifies the necessity of proper interpretations of unusual clinical and radiographic features. CASE PRESENTATION: We describe a 3-months-old-infant presented with the phenotypic and the radiographic features consistent with the diagnosis of Stüve-Wiedemann syndrome. We report what might be the first clinical report of Stüve-Wiedemann syndrome from a consanguineous family in Austria. CONCLUSION: Congenital limitations of the hips in a newborn infant raise the possibility of " Congenital Hip Dislocation". As congenital hip dislocation is a dysplastic process. Here further knowledge by the pediatrician and the orthopaedic surgeon is needed. Our present patient appears to constitute a distinct pathological entity consistent with Stüve-Wiedemann syndrome (SWS). Superti-Furga et al, and Cormier-Daire et al, also suggest that Stüve-Wiedemann syndrome and Schwartz-Jampel syndrome type 2 are allelic conditions. We wish to stress that, given the rarity of syndromic malformation complex, our impression is that it is more common than it is reported.

Femoral-tibial-synostosis in a child with Roberts syndrome (Pseudothalidomide): a case report.

BACKGROUND: Roberts syndrome (Pseudothalidomide) is a rare birth defect that causes severe bone malformation complex. The bones of the arms, and in some cases other appendages, may be extremely shortened and even absent. The fingers of the hands may be fused. An extreme case results in the absence of the upper bones of both the arms and legs so that the hands and feet appear attached directly to the body. This is called tetraphocomelia. CASE PRESENTATION: We report on a two-year-old boy of Austrian origin who manifests a constellation of malformation complex include prenatal and postnatal growth retardation, craniofacial anomalies and defective development of all four extremities. The overall clinico-radiographic features were compatible with Roberts syndrome (Pseudothalidomide). Significant unilateral femoral-tibial synostosis was additional malformation. CONCLUSION: Associated malformations and symptoms may be the key factor in the differential diagnosis of neonatal malformation complex. Roberts's syndrome may be genetically transmitted within families as an autosomal recessive trait or may be the result of spontaneous/sporadic changes in the gene. Because the signs of the disorder so closely mimic those caused by the ingestion of thalidomide, the term "pseudo-thalidomide" is frequently used.In this report we describe total femorotibial fusion in a child manifesting the phenotypic features consistent with Roberts syndrome from a healthy parents but first cousins in Austria. Aggressive medical intervention is of prime importance, as is forthright parental counselling when discussing the possible outcome for these patients.

Reproducibility of the radiographic metatarsophalangeal angle in hallux surgery.

BACKGROUND: Five different methods have been described to define the longitudinal axis of the first metatarsal for radiographic measurements of the first metatarsophalangeal angle. None of these methods has been validated for both preoperative and postoperative assessment of patients undergoing hallux valgus surgery. Previous studies have demonstrated conflicting results regarding the measurement accuracy of these methods. METHODS: To evaluate the measurement accuracy of these five methods, we calculated the intraobserver and interobserver coefficients of repeatability for all five methods with use of twenty preoperative and twenty postoperative standardized plain dorsoplantar weight-bearing radiographs of patients undergoing chevron distal osteotomy. RESULTS: The preoperative assessment of the metatarsophalangeal angle revealed small differences among the five methods. The intraobserver coefficient of repeatability ranged from 2.10 degrees to 3.34 degrees, and the interobserver coefficient ranged from 2.17 degrees to 3.44 degrees. The postoperative assessment demonstrated substantial differences between methods in which the diaphysis of the first metatarsal is used as a reference (intraobserver coefficient, 5.06 degrees to 7.23 degrees; interobserver coefficient, 5.29 degrees to 8.19 degrees) and methods in which there is one reference point in the metatarsal head and one reference point in the base of the first metatarsal (intraobserver coefficient, 1.88 degrees to 2.67 degrees; interobserver coefficient, 1.86 degrees to 2.34 degrees). CONCLUSIONS: For the assessment of patients undergoing a distal metatarsal osteotomy, we cannot recommend methods in which the metatarsal shaft is used as a reference for the axis of the first metatarsal. Such methods had poor measurement accuracy, especially postoperatively. Methods with reference points distal and proximal to any possible osteotomy site had much better measurement reproducibility. We recommend the method described by Miller in 1974, in which a line is drawn from the center of the first metatarsal head through the center of the base of the first metatarsal, as it was the most precise method and was least biased by postoperative effects.

Intra- and interobserver repeatability of radiographic measurements in hallux surgery: improvement and validation of a method.

To test the hypothesis that the reproducibility of radiographic measurements of the first metatarsophalangeal angle and the intermetatarsal angle I-II can be increased by exact guidelines, we calculated the intra- and interobserver reliability of both methods. 4 independent observers (2 senior residents and 2 orthopedic trainees) evaluated 50 pre- and 50 postoperative plain dorsoplantar radiographs with their method of preference and then with Mitchell et al.'s method (1958). The mean intraobserver coefficient of repeatability for the metatarsophalangeal angle improved from 5.9 degrees to 4.2 degrees and for the intermetatarsal angle I-II, from 4.4 degrees to 2.8 degrees. The interobserver coefficient of repeatability improved from 6.5 degrees to 5.0 degrees for the metatarsophalangeal angle, and from 4.9 degrees to 3.6 degrees for the intermetatarsal angle I-II. This improvement in measurement accuracy was more marked for postoperative measurements, due to deformation of the metatarsal after the osteotomy which made it more difficult to find the longitudinal axis of the metatarsal. The improvements in the accuracy of measurements were also greater in the two inexperienced observers, since their measurements differed more when they had no exact guidelines for their drawings.