Ankle reconstruction in type II fibular hemimelia

Ankle reconstruction prior to limb lengthening for was performed in 13 patients with fibular hemimelia with complete radiological absence of the fibula (type II). There were different degrees of absence of metatarsal rays. The hindfoot deformity was a heel valgus in 12 patients and equinovarus in 1 patient. The patients’ ages ranged from 9 to 26 months. Excision of the fibular anlage was performed with lateral subtalar and ankle soft tissue releases to restore the ankle and subtalar joint relationships. In all cases, the fibular anlage ended distally in a cartilaginous lateral malleolar remnant that was fused to the talus in two patients. This fibular remnant was advanced distally and fixed to the tibia with 2 Kirschner wires to recreate an ankle mortise. The period of follow-up ranged from 12 to 38 months. All patients had a stable ankle without tendency to valgus deformity or subluxation. The ankle range of movement was a mean of 27.3° plantarflexion (25–30) and 18° dorsiflexion (15–20). Reconstruction of the ankle in type II fibular hemimelia using advancement of the cartilaginous lateral malleolar remnant has produced encouraging results in the short-term but longer follow-up is needed

Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype

The kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA) is a rare recessively inherited connective tissue disorder characterized by bruisable, hyperextensible skin, generalized joint laxity, severe muscular hypotonia at birth and progressive congenital scoliosis or kyphosis. Deficiency of the enzyme lysyl hydroxylase 1 (LH1) due to mutations in PLOD1 results in underhydroxylation of collagen lysyl residues and, hence, in the abnormal formation of collagen cross-links. Here, we report on the clinical, biochemical, and molecular findings in six Egyptian patients from four unrelated families severely affected with EDS VIA. In addition to the frequently reported p.Glu326_Lys585dup, we identified two novel sequence variants p.Gln208* and p.Tyr675*, which lead either to loss of function of LH1 or to its deficiency. All affected children presented with similar clinical features of the disorder, and in addition, several dysmorphic craniofacial features, not yet described in EDS VIA. These were specific for the affected individuals of each family, but absent in their parents and their unaffected siblings. Conclusion: Our description of six patients presenting with a homogeneous clinical phenotype and dysmorphic craniofacial features will help pediatricians in the diagnosis of this rare disorder

Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype

The kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA) is a rare recessively inherited connective tissue disorder characterized by bruisable, hyperextensible skin, generalized joint laxity, severe muscular hypotonia at birth and progressive congenital scoliosis or kyphosis. Deficiency of the enzyme lysyl hydroxylase 1 (LH1) due to mutations in PLOD1 results in underhydroxylation of collagen lysyl residues and, hence, in the abnormal formation of collagen cross-links. Here, we report on the clinical, biochemical, and molecular findings in six Egyptian patients from four unrelated families severely affected with EDS VIA. In addition to the frequently reported p.Glu326_Lys585dup, we identified two novel sequence variants p.Gln208* and p.Tyr675*, which lead either to loss of function of LH1 or to its deficiency. All affected children presented with similar clinical features of the disorder, and in addition, several dysmorphic craniofacial features, not yet described in EDS VIA. These were specific for the affected individuals of each family, but absent in their parents and their unaffected siblings. Conclusion: Our description of six patients presenting with a homogeneous clinical phenotype and dysmorphic craniofacial features will help pediatricians in the diagnosis of this rare disorder

The stability characteristics of thin, flat, orthotropic plates with circular holes

SIGLEAvailable from British Library Document Supply Centre- DSC:D69566/86 / BLDSC - British Library Document Supply CentreGBUnited Kingdo

Combined Lateral and Transcuneiform without Medial Osteotomy for Residual Clubfoot for Children

Residual deformity in resistant clubfoot is not uncommon. The “bean-shaped foot” exhibits forefoot adduction and midfoot supination and may interfere with function due to poor foot placement. For children less than 5 years of age we describe a corrective procedure combining a closing wedge cuboidal osteotomy and trans-midfoot rotation procedure without a medial opening wedge osteotomy. We retrospectively reviewed twelve patients (14 feet), mean age 4.7 years (range, 4–5 years), who had undergone the procedure to correct forefoot adduction and midfoot supination deformities. We obtained minimal access via a small lateral skin incision. Cuboid lateral wedge osteotomy was followed by transcuneiform osteotomy using a Kirschner wire as a guide under an image intensifier. The minimum followup was 2 years (mean, 2.6 years; range, 2–3.2 years). All patients had qualitative improvement in correction of adduction and supination deformities. Radiographically there was an improvement in adduction deformity, the mean anteroposterior talo-first metatarsal and calcaneo-fifth metatarsal angles improved by 28° (from 40° to 12°) and by 11° (from 21° to 10°). The supination improved by 11° (from 19° to 8°) and the cavus improved by 17° (from 30° to 13°). The short-term outcome was reliable and this combination is useful for children younger than 5 years old where the medial cuneiform ossification center remained poorly defined