G. Finidori

Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance

Acromicric dysplasia is a rare bone dysplasia characterised by short stature, short hands and feet, normal intelligence, mild facial dysmorphism, and characteristic x ray abnormalities of the hands. Only a very small number of children with this condition have been reported so far. Here we report on a series of 22 patients including 10 boys and 12 girls with acromicric dysplasia. Length was normal at birth and height fell progressively off the centiles postnatally. The mean adult height was 130 cm (133 cm in males, 129 cm in females). The hands, feet, and limbs were short and OFC was normal. Intelligence was normal and mild dysmorphic features were noted. Other occasional features included well developed muscles, a hoarse voice, generalised joint limitation in some patients, frequent ear, tracheal, and respiratory complication, and spine abnormalities. Long term follow up showed that facial dysmorphism was less obvious in adults and that carpal tunnel syndrome was frequent in older patients. Apart from short metacarpals and phalanges, internal notch of the second metacarpal, external notch of the fifth metacarpal, and internal notch of the femoral heads, there were no majorx ray abnormalities. No major complications, such as cardiac disease or major orthopaedic problems, occurred in the course of the disease. The condition appeared to be sporadic in 16 cases but the observation of vertical transmission in three families was consistent with an autosomal dominant mode of inheritance.

Pamidronate Treatment of Children with Moderate-to-Severe Osteogenesis Imperfecta: A Note of Caution

Background/Aims: Bisphosphonates have been reported to decrease fractures related to osteogenesis imperfecta (OI). We assessed the efficacy and long-term safety of pamidronate therapy in patients with moderate-to-severe OI. Methods: We conducted an open-label uncontrolled study in 14 boys and 13 girls whose mean age was 6.8 years at baseline. Intravenous pamidronate, 1 mg/kg/day, was given for 3 consecutive days every 4 months for 2–6 years, with physical therapy and orthopedic surgery as appropriate. Mobility score, fracture rate, height, bone mineral density (BMD) and bone healing were evaluated throughout follow-up. Results: In 24 (89%) patients, the fracture rate decreased to ≤2/year and/or the mobility score improved. The remaining 3 (11%) patients continued to experience more than 2 fractures per year with mobility scores <2 despite significant BMD gains. Delayed radiographic fracture healing (>6 months) occurred in 8 (29.6%) patients; their BMD gains, baseline age and treatment duration were not significantly different from those in the other patients. Tolerance was good. Conclusion: Pamidronate with physiotherapy and orthopedic management improved outcomes without delaying fracture healing in 19 (70%) of 27 patients. Delayed fracture healing occurred in 8/27 patients. Pamidronate should be reserved for severe OI with multiple fractures and/or flattened vertebras.

Coxa Vara in Chondrodysplasia : Prognosis Study of 35 Hips in 19 Children

Background: To better understand anatomical and functional outcomes of coxa vara in chondrodysplasia according to the initial presenting hip morphology, disease type, and impact of surgery. Methods: Clinical and radiographic records of 19 children (35 hips) diagnosed with coxa vara and with osteochondrodysplasia were reviewed. We classified the hip radiographic findings into 2 groups: (a) group I, coxa vara with a fragmented and/or nonossified head; and (b) group II, coxa vara with a regular femoral head. Surgical indications in coxa vara included decreased range of hip motion (usually diminished abduction, extension, and internal rotation), coxa vara with progression documented on regular follow-up hip radiographs, and/or severe coxa vara with a Hilgenreiner epiphyseal angle (HEA) of 60 degrees or more. Follow-up was until the completion of growth and, for some patients, into early adulthood. Mean follow-up was 8 years. Results: Twenty-five hips were operated on in 13 patients. In 23 hips, the procedure was a valgus osteotomy fixed by pins and wire. A pelvic extension osteotomy without valgus osteotomy was performed in one patient (2 hips). Coxa vara recurred in 7 hips. In 4 of these hips, repeat surgery with hypervalgus osteotomy was indicated to stop epiphyseal slipping (3 hips) or to improve the arc of motion (1 hip). Functional outcomes were poor in coxa vara associated with poor epiphyseal development (nonossified or fragmented epiphysis) as seen in spondyloepiphyseal dysplasia congenita, spondyloepimetaphyseal dysplasia, Kniest disease, and multiple epiphyseal dysplasia. Coxa vara with physeal instability as observed in spondylometaphyseal dysplasia resulted in deformity recurrence postoperatively during growth. In contrast, outcome was better in cases of coxa vara with nonphyseal/nonepiphyseal involvement, that is, good femoral head morphology, stable physis, and good articular cartilage, as seen in cases of metaphyseal dysplasia and cleidocranial dysplasia. Conclusions: Coxa vara with physeal and epiphyseal involvement and severe impairment of the articular cartilage has a poor prognosis even after reconstructive surgery. In coxa vara with an abnormal physis, there were numerous postsurgical recurrences of the deformity during growth if the physis was not stabilized at the time of valgus osteotomy. In these cases, we should delay osteotomy until an HEA greater than 60 degrees. Coxa vara in which only the metaphysis of the femoral neck is involved, the deformity is milder and often requires no treatment. Indications for surgery in this group are increasing coxa vara, Trendelenburg gait, or an HEA greater than 60 degrees.

Long-term outcome in desbuquois dysplasia: A follow-up in four adult patients†

Desbuquois dysplasia is a rare chondrodysplasia characterized by short stature, joint laxity, and specific radiographic findings. We report the natural history of four patients (three boys and one girl) with Desbuquois dysplasia ages 16–22 years. The mean height in adulthood was 114 cm (−8.5 SD) with progressive deceleration of the growth curve from birth (−4 SD) to adulthood. Obesity was noted consistently and facial abnormalities were still present but less obvious than in childhood. Three of four patients had mental retardation of varying degree. Hyperlaxity was persistent but limited motion of various joints was also noted. Orthopedic complications included coxa vara or valga (3/4), scoliosis (3/4), marked lordosis (3/4), and ambulatory difficulties (3/4). Surgical treatment was necessary for all four patients, involving large joints, spine and hands. Other complications included acute open‐angle glaucoma secondary to a congenital malformation of the angle in one case. In addition to consistent radiological findings, elevated greater trochanter, generalized osteoporosis especially of the spine, scoliosis and/or lordosis, wide metaphyses, flat epiphyses, and coxa vara or valga were part of the natural history of the disorder. Our study emphasizes the care of older patients with Desbuquois dysplasia.

Résultats des arthrodèses vertébrales postérieures dans les scolioses secondaires à une ostéogenèse imparfaite

Resume Une etude retrospective a ete conduite afin de documenter et d’analyser les resultats des arthrodeses vertebrales posterieures dans le cadre des deformations scoliotiques associees a une osteogenese imparfaite durant la periode de 1977 a 2002. Nous avons revu 27 patients operes d’une arthrodese vertebrale posterieure apres preparation par traction preoperatoire par halo crânien, avec une instrumentation de type Harrington (n = 2) ou bien C.D. (n = 23) et deux cas d’arthrodese posterieure non instrumentee. Onze de ces patients etaient des garcons et seize etaient des filles. L’âge moyen le jour de l’arthrodese etait de 13 ans 4 mois, et la moyenne des courbures preoperatoires etait de 77 degres avec une correction de l’ordre de 37 % en postoperatoire. Le suivi moyen a ete de 6 ans. Des complications mineures dues a une surinfection et un glissement d’un pointeau de traction crânien ont ete observees chez deux patients et une perte de correction avec fracture du materiel chez 4 patients. Nous pensons qu’une arthrodese vertebrale posterieure pour deformation scoliotique secondaire a une osteogenese imparfaite doit etre entreprise apres une periode de preparation et de traction par halo crânien afin d’ameliorer les conditions mecaniques et respiratoires, de corriger progressivement la scoliose et de prevenir les complications qui peuvent survenir. L’arthrodese vertebrale posterieure permet chez ces patients atteints d’une deformation rachidienne, outre la preservation des capacites respiratoires et de la taille, une correction du desequilibre du tronc afin d’ameliorer la posture et un meilleur appareillage en fauteuil roulant chez les non marchants, voire une verticalisation.

La dysplasie fibreuse de l’extrémité proximale du fémur chez l’enfant et l’adolescent: Résultats du traitement chirurgical dans 22 cas

Resume La dysplasie fibreuse, pathologie rare, a pour localisation elective l’extremite proximale du femur. Les fractures iteratives et la deformation en coxa vara sont les menaces evolutives les plus importantes chez l’enfant, principalement dans la forme polyostotique. Cette localisation represente le probleme orthopedique le plus frequent et la principale indication chirurgicale. Le but de cette etude etait d’analyser le resultat clinique et radiologique apres traitement chirurgical. Entre 1979 et 2001, 22 enfants ont ete operes pour dysplasie fibreuse de l’extremite proximale du femur. Huit patients etaient porteurs d’une forme monostotique et 14 d’une forme polyostotique. Dans la forme monostotique, le type de traitement chirurgical a ete fonction de la taille et de la localisation de la lesion et comportait systematiquement un curetage de la tumeur. Dans la forme polyostotique, le traitement chirurgical a comporte une osteotomie de valgisation avec « humeralisation » en cas de coxa vara associee a une osteosynthese interne, le plus souvent par enclouage centro-medullaire. Dans la forme monostotique, le resultat a ete juge cliniquement bon dans tous les cas avec disparition ou quasi-disparition de la lesion dans 75 % des cas. Dans la forme polyostotique, nous avons observe des corrections stables de la deformation par osteotomie de valgisation avec « humeralisation » montee par un clou. Les resultats ont ete moins bons en raison de fractures et de deformations. Au vu de la litterature et de nos resultats, le pronostic de la forme monostotique apres traitement chirurgical est globalement bon. Dans la forme polyostotique, une osteosynthese preventive est necessaire. L’osteotomie de valgisation avec « humeralisation » semble corriger et prevenir la deformation en coxa vara dans certains cas. Dans les formes les plus severes, un traitement par biphosphonates associe au traitement chirurgical offre de nouvelles perspectives.

Children ankle valgus deformity treatment using a transphyseal medial malleolar screw

INTRODUCTION Ankle valgus deformity is rare in children. It generally leads to difficulties wearing shoes, walking instability and mechanical pain. No medical treatment is effective and the only option is surgical correction of the deformity. Two main options are available: supramalleolar osteotomy and medial malleolar epiphysiodesis. We report our experience with epiphysiodesis using a transphyseal medial malleolar screw. PATIENTS AND METHODS This is a retrospective study of all children followed for ankle valgus and treated by transphyseal medial malleolar screw epiphysiodesis in our department. The study included 10 cases of ankle valgus deformity in seven children (four with multiple extostoses, two type 1 neurofibromatosis, one Larsens syndrome) who completed skeletal maturity. At surgery, median bone age was 12 years (10 to 13 years and 6 months) and the median tibiotalar angle was 17.5° (10° to 30°). RESULTS At skeletal maturity, preoperative valgus was corrected in six patients (9/10 ankles). The median tibiotalar angle was 5° (0° to 25°). Valgus was not corrected in one patient (30° to 25°). No postoperative complications occurred. DISCUSSION Epiphysiodesis by transphyseal medial malleolar screw is a simple, efficient and safe procedure to correct a significant or symptomatic ankle valgus deformity in children before skeletal maturity. LEVEL OF EVIDENCE Level IV, retrospective study.

A new osteogenesis imperfecta with improvement over time maps to 11q.

Osteogenesis imperfecta (OI) is basically divided into four clinical types, I–IV. Type IV clearly represents a heterogeneous group of disorders. Here we describe two OI patients in the same family. They would typically be classified as having type IV, but are distinguishable from other OI type IV patients by the improving and resolving course of their disease. Mutation screening did not identify mutations affecting glycine codons or splice sites in the coding regions of the two collagen I genes. Genome‐wide screening of DNA samples from the two homozygous patients identified one region of high concordance of homozygosity on chromosome 11 on the long arm (11q23.3–11q24.1).

Surgical Treatment of Enchondromas of the Hand During Childhood in Ollier Disease

PURPOSE The objective of the present study was to evaluate the outcome of surgical treatment of hand lesions in Ollier disease (OD) carried out during childhood. METHODS A retrospective review was carried out of 10 pediatric patients with hand involvement of OD, who had undergone surgery for metacarpal or phalangeal enchondromas. The technique comprised curettage and cortical bone reconstruction with corticoplasty, to restore a near-normal phalangeal volume. The range of finger motion (pulp-to-palm distance), the shortened Disabilities of the Arm, Shoulder, and Hand (QuickDASH) questionnaire score, cosmetic improvement, radiological findings (according to Tordais classification), and recurrence were recorded after a mean follow-up of 7.5 years (range, 4-11.3 years). RESULTS The mean age at surgery was 10.7 years (range, 6-14 years). Curettage was performed on 35 enchondromas, and 9 cavities were filled with a bone graft. The mean pulp-to-palm distance was significantly lower after surgery (from 1.5 cm to 0.25 cm; P < .05). The mean QuickDASH score was 3.84 (range, 0-11.4). A marked cosmetic improvement was noted for 83% of the hands. Three enchondromas recurred in 1 patient, requiring a second curettage. Fifty-seven percent of the cavities were completely filled with bone (Tordai stage 1) at last follow-up. The outcome did not depend on the presence or absence of a bone graft. CONCLUSIONS Our results suggest that early surgical treatment comprising curettage and corticoplasty leads to good clinical, cosmetic, and radiological outcomes. Early surgical treatment of well-developed and/or symptomatic enchondromas of the hand in OD should be considered. TYPE OF STUDY/LEVEL OF EVIDENCE Therapeutic V.

Traitements des déformations rachidiennes des maladies neuromusculaires

Les deformations rachidiennes dans les maladies neuromusculaires sont frequentes, parfois graves, menacant le pronostic fonctionnel, respiratoire, voire vital. Ces pathologies sont multiples, de gravite et d’evolution fort differentes et pour une meme affection genetique, l’expression clinique d’un patient a l’autre peut etre tres variable. La prise en charge doit donc etre preventive, adaptee a chaque patient, en tenant compte de l’evolutivite de la maladie et de son pronostic fonctionnel, respiratoire et cardiaque. Les decisions therapeutiques doivent s’integrer dans une prise en charge pluridisciplinaire que ce soit le choix des ortheses (corset), la reeducation respiratoire (relaxateur de pression, ventilation non invasive) ou la surveillance cardiaque. Le temps de la chirurgie sera encadre par une equipe habituee a ces pathologies (anesthesistes, reanimateur, kinesitherapeutes) ainsi que la prise en charge reeducative postoperatoire.