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

UNLABELLED: 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.

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.

One-stage hip reconstruction in late neglected developmental dysplasia of the hip presenting in children above 8 years of age.

PURPOSE: To assess the clinical and radiological results of one-stage hip reconstruction for late neglected developmental dysplasia of the hip (DDH) in children above 8 years of age. METHODS: Nineteen hips in 16 patients, 14 females and two males (three being bilateral), were treated by open reduction adequate shortening (up to 5 cm) with derotation, and limited varization if needed, tight capsulorrhaphy, and appropriate pelvic reconstruction (Salter or triple acetabular osteotomy). The average age at operation 10.6 years (range 8-18 years). The period of follow up ranged from 3 to 9 years. A modified approach for the hip joint and upper femur was utilized, allowing better exposure. Pre- and post-operative plain radiography was performed for all cases and at follow up. Computed tomography (CT) or multislice CT with 3D reconstruction were carried out pre-operatively for recent cases and post-operatively for all, and were found to be helpful in providing a panorama of the dysplastic hip and in planning the required surgery and assessing the results. RESULTS: According to the McKay modified criteria, 15 hips (79%) were clinically excellent to good, while four hips (21%) were fair to poor. Radiographically, according to the Severin modified criteria, 16 hips (84%) were excellent to good and three hips (16%) were fair to poor. Limb length discrepancy ranged from 0.5 to 2.1 cm, as measured by CT scanograms. Complications were avascular necrosis (AVN) in an early case due to limited femoral shortening with resultant excessive stress over the femoral head and subluxation in another case. CONCLUSION: A one-stage hip reconstruction for late neglected cases of DDH have achieved excellent results if adequate shortening with derotation is performed, together with appropriate acetabular reconstruction and tight capsulorrhaphy. Varization should not replace part or all of the required shortening, and should be added if required.

Osteochondroplasty of the femoral head in hip reconstruction for type II late sequelae of septic arthritis: a preliminary report.

PURPOSE: To suggest different procedures tailored for hip reconstruction in type II late sequelae of septic arthritis. METHODS: The severely deformed subluxated or dislocated femoral head is reshaped in accordance to radiographic and on-table assessment (osteochondroplasty). Sixteen hips in 13 patients (three bilateral) were the subject of this study. They were all affected during incubation in the first few weeks after birth. Age at operation was in the range 2-12 years (average 5.3). The main complaint was instability, stiffness during walking and the inability to sit comfortably, limb length discrepancy, and mild pain on walking. Preoperatively, the range of motion was limited to a certain degree in different directions in all cases. Plain radiography, computed tomography (CT), or multi-slice CT with reconstruction 3D views were of benefit in analyzing the problem preoperatively. Magnetic resonance imaging (MRI) was performed for selected cases after 2 years to test for the viability of the femoral head. SURGICAL TECHNIQUE: A modified approach was used to adequately expose the iliac bone, the hip, and the upper third of the femur. Meticulous dissection to preserve the amalgamated capsule and a well-planned capsulotomy for later adequate capsulorrhaphy is essential. Debridement to clear the acetabulum from intra-articular fibrosis is attempted prior to acetabular reconstruction (Salter, Dega, or triple pelvic osteotomy). Head and neck reconstruction (osteochondroplasty) is performed according to the nominated topography of the deformed head (beard, collared, staghorn, etc.). A carefully planned reshaping in a manner not disturbing the superior weight bearing articulating surface with the acetabulum will allow easy containment in the reconstructed acetabulum. Associated subluxation or dislocation will dictate adequate shorting with femoral cuts inclined in a manner bringing the impinging overgrown greater trochanter down, achieving a near to normal neck shaft angle. RESULTS: According to the criteria proposed by Hunka et al. (Clin Orthop Relat Res 171:30-36, 1982), a satisfactory result is considered when a stable pain-free hip is achieved with flexion arc >70 degrees and flexion contracture <20 degrees . This was true in 13 hips. It appears that better results are achieved in younger children with minimal intra-articular adhesions limiting hip movements, and with less destruction of the articular cartilage. A final improvement in the range of movement should not be expected before 6-12 months. Intensive physiotherapy to improve postoperative stiffness is required. CONCLUSION: The proposed reconstruction procedure for reshaping the deformed femoral head (osteochondroplasty) is a salvage attempt that achieved a more or less mobile painless stable hip joint besides restoring the normal anatomical relationship, should total hip replacement (THR) be needed in the future.