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.

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".

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.

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.

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).