Dysmorphic facies and diffuse posterior spine ankylosis in a patient with unusual form of spondyloenchondrodysplasia (Spranger type IV).

We describe a male patient, who was seen for the first time at the age of 8 years because of short trunk dwarfism. Spine radiographs showed platyspondyly with irregular areas of increased and decreased mineralization (irregular spotted appearance within lytic lesions located along the posterior vertebral bodies of the entire spine). Skeletal survey showed no enchondromatous lesions of the short/long tubular bones. At the age of 17, progressive spine stiffness associated with stooping posture developed. 3DCT scanning showed pathological transformation of the spinal enchondromas into generalized ossification and thickening of the posterior vertebral elements (vertebral laminae, supraspinal, and interspinal ligaments, respectively) causing effectively the development of a diffuse posterior spinal ankylosis. We report what might be a unique subtype of spondyloenchondrodysplasia (Spranger type IV).

[Epidemiology of acute hematogenous osteomyelitis in children: a prospective study over a 32 months period]. / Epidémiologie des ostéomyélites aiguës hématogènes communautaires de l'enfant : Etude prospective sur 32 mois.

AIM: To determine the demographic, clinical, biological and bacteriological profile of acute community acquired hematogenous osteomyelitis (AHO) in children. METHODS: Prospective study including children admitted for AHO. We noted the demographic parameters of patients and the clinical, biological and radiological characteristics of the infection. Blood cultures and local specimen in operated children were systematically performed. RESULTS: 70 patients were included. The mean age was 7.7 years. The mean time between onset of symptoms and admission was 3.2 days. Distal tibia was the most frequent localization (18.66%). Fever higher than 38° on admission was found in 92.8% of patients. Creactive protein (CRP) was superior to 20 mg / L in 95.8% and ESR superior to 20 mm in the first hour in 92% of cases. A deep venous thrombosis was found in 7 patients and a pleuropulmonary Staphylococcus infection in 4 patients. A micro organism was isolated in 64.7% of cases. Staphylococcus aureus methicillin susceptible (SAMS) was the predominant germ. Staphylococcus aureus methicillin resistant (SAMR) accounted for 15.7% of staphylococcus aureus infections. The importance of CRP on admission and time to resolution of fever after the start of treatment were significantly higher in SAMR infections. The existence of deep venous thrombosis and a pleuropulmonary Staphylococcus infection and the need for surgical drainage were significantly more frequent in SAMR infections. CONCLUSION: The existence of a severe form of AHO should lead to a high suspicion of SAMR infection and prompt the prescription of an appropriate antibiotiotherapy.

Progressive correction of severe spinal deformities with halo-gravity traction.

Treatment of rigid and severe spinal deformities is challenging and risky. Preoperative halo-gravity traction can be used to progressively reduce the deformity before spinal fusion. The aim of this study was to evaluate the effectiveness of halo-gravity traction for the correction of severe spinal deformities. Fifteen patients were reviewed retrospectively. Their mean age at the beginning of traction was 13.5 years. The mean duration of traction was 64 days. The main curve in the coronal plane improved from +/- 95 degrees to +/- 67 degrees, a gain of +/- 28 degrees (range 0 degrees-50 degrees) or +/- 30%. The curve in the sagittal plane improved from +/- 96 degrees to +/- 78 degrees, a gain of +/- 18 degrees (range 0 degrees-45 degrees) or +/- 19%. Other authors report gains up to 46% and 43%, respectively in the coronal and in the sagittal plane, but this might be due to different conditions, techniques, and evaluations. One patient with a pre-existing neurological deficit developed paraplegia. According to the literature congenital curves with associated kyphosis are exposed to paraplegia. Halo-gravity traction is effective and is usually tolerated better than other techniques of traction using the halo device.

Childhood soft tissue chondroma. Two cases report.

BACKGROUND: Soft tissue chondroma is a rare benign tumour, which is generally seen in adult. It consists of islands of heterotopic cartilaginous tissue and most localised on the hands and the feet. The hypothesis that microtrauma is involved in the aetiology of this condition has yet to find any factual support. AIM: To report two paediatric cases of soft tissue chondroma. CASES REPORT: The first is a soft tissue chondroma of the posterior aspect of the left axilla in a 3-year-old boy. CT scans showed a spherical fatty density soft tissue mass without evident calcifications, attaching the infraspinous muscle. The second patient is a 9-year-old girl presented with a right auricular finger soft tissue chondroma. Radiographs showed several punctuated calcifications with adjacent bone scalloping. MRI revealed a lobulated soft tissue mass attaching the flexor tendons. The tumours were entirely removed. Histological examination showed cartilaginous tissue in both cases. At follow-up, the patients had good functions without evidence of recurrence. CONCLUSION: Simple excision should suffice to treat soft tissue chondroma but care should be taken to make the excision complete if recurrence are to be avoided.

Occipitoatlantoaxial junction malformation and early onset senile ankylosing vertebral hyperostosis in a girl with MURCS association.

Recent onset of head mobility limitations associated with significant stiffness along the vertebral column were the predominating symptomatology in a girl with MURCS association. Occipitoatlantoaxial junction malformation complex and vertebral hyperostosis have been identified. Three-dimensional computerized tomography (3-DCT) scan showed assimilation of the anterior arch of the atlas causing basilar invagination. She also had significant thoracic vertebral hyperostosis closely resembling senile ankylosing vertebral hyperostosis (Forestier disease). We report on what might be a novel constellation of spine maldevelopment in connection with MURCS association.

Persistent torticollis, facial asymmetry, grooved tongue, and dolicho-odontoid process in connection with atlas malformation complex in three family subjects.

Congenital clefts and other malformations of the atlas are incidental findings identified while investigating the cervical spine following trauma. A persistent bifid anterior and posterior arch of the atlas beyond the age of 3-4 years is observed in skeletal dysplasias, Goldenhar syndrome, Conradi syndrome, and Down's syndrome. There is a high incidence of both anterior and posterior spina bifida of the atlas in patients with metabolic disorders, such as Morquio's syndrome [Baraitser and Winter in London dysmorphology database, Oxford University Press, 2005; Torriani, Lourenco in Rev Hosp Clin Fac Med Sao Paulo 53: 73-76, 2002]. We report two siblings and their mother, with congenital, persistent torticollis, plagiocephaly, facial asymmetry, grooved tongues, and asymptomatic "dolicho-odontoid process". All are of normal intelligence. No associated Neurological dysfunction, paresis, apnoea, or failures to thrive were encountered. Radiographs of the cervical spine were non-contributory, but 3D CT scanning of this area allowed further visualisation of the cervico-cranial malformation complex in this family and might possibly explain the sudden early juvenile mortality. Agenesis of the posterior arch of the atlas and bifidity/clefting of anterior arch of the atlas associated with asymptomatic "dolicho-odontoid process" were the hallmark in the proband and his female sibling. Some of the features were present in the mother. All the family subjects were investigated. To the best of our knowledge the constellation of malformation complex in this family has not been previously reported.

[The proximal humeral osteotomy associated with the transfert of Latissimus Dorsi and Teres major in treatment of sequelae of the obstetrical brachial plexus]. / L'ostéotomie humérale proximale associée au transfert du latissimus dorsi et teres major dans le traitement de certaines séquelles tardives de la paralysie obstétricale du plexus brachial.

BACKGROUND: Shoulder sequelae of obstétrical brachial plexus palsy put a different problem of coverage according to the age of the patients and the presence or not of ostéo-articular deformations. At an advanced age and in the presence of ostéo-articular deformations, the muscles liberation and transfers tendineux only are insufficient for the restoring of a satisfactory function to the paralytic shoulder. AIM: The purpose of this study is to report an original technique by the association of libertation of retracted muscles and a humeral osteotomy to improve the abduction and to acquire an active external rotation in internal rotation retraction of the shoulder sequelae of obstétrical brachial plexus palsy. METHODS: This retrospective study concerned twelve patients admitted in the service of Childish Orthopaedics of Children's hospital of Tunis between 1997 and 2003. The average age of the patients are 11 years. All the patients have a proximal humeral osteotomy above the deltoïdien V with a desinsertion of the Subscapularis and to the transfer of the Latissimus Dorsi and Teres Major, realized by a single posterior approch. RESULTS: After a mean follow up of 48 month a frank aesthetic and functional improvement was noted in every case. CONCLUSION: The importance of retraction for an advanced age, made that an humeral osteotomy of external derotation is necessary. Have a practice above the deltoïdien V it allows to improve at the same time the external rotation and the abduction due to the lateral translation of the deltoid. This last one is strengthen by the désinsertion of a retracted Subscapularis and levying of the co-contractions of the Latissimus Dorsi and Teres major with the deltoid almost constant.

Craniovertebral malformation complex in a child with Weismann-Netter-Stuhl syndrome.

OBJECTIVE: Bowing of the legs is usually thrown into the basket of vitamin D deficiency rickets; therefore, a significant number of affected children can be misdiagnosed and improperly managed. This case illustrates how the careful clinical and radiological assessment of such a case can lead to the adequate understanding of its etiology. DESCRIPTION: We report a sporadic case of a 2-year-old male child who presented with radiological features that were compatible with Weismann-Netter-Stuhl syndrome. In addition, we observed craniovertebral malformation complex. He was of normal intelligence. To our knowledge, the combination of Weismann-Netter-Stuhl syndrome and presence of a hypoplastic occipitalized atlas and further C2-C3 fusion has not been reported before. The diagnosis of Weismann-Netter-Stuhl is discussed. Classically, Weismann-Netter-Stuhl syndrome is characterized by short stature, mental retardation (in some individuals), dural calcification, and anterior bowing of the tibiae. However, we believe that careful clinical and radiological examinations can reveal more striking data which might positively reflect on the whole process of management. COMMENTS: We postulate that the congenital limitations in neck movements in our patient developed because of the marked fusion of the hypoplastic and occipitalized atlas and simultaneous C2-C3 fusion. Therefore, if this form of malformation is disregarded, there may be involvement of the atlantoaxial structure, and this can possibly lead to serious neurological and even life-threatening complications. The use of CT scanning for the detection of such abnormalities can be remarkably important.

The Diversity of the Clinical Phenotypes in Patients With Fibrodysplasia Ossificans Progressiva.

BACKGROUND: The clinical presentation, phenotypic characterization and natural history of fibrodysplasia ossificans progressiva (FOP) are diverse and the natural history of the disease is, to a certain extent, different from one patient to another. METHODS: In a series of 11 patients (eight girls and three boys, aged 0 - 16 years), variable clinical presentations were the landmarks of these patients. At birth, all of our patients manifested short great toes in a valgus position. Marfan syndrome was the suggested diagnosis in three children aged 3 - 8 years and in two pre-adult patients. Clinical symptoms were torticollis, painful spine, and painful and marked limitation of the pelvic movements. Monophalangia associated with Marfanoid habitus was also a prevailing clinical presentation. RESULTS: Our results were based upon the appearance of the earliest pathologic feature of FOP in correlation with the clinical presentation. In infants (0 - 1 year), three infants showed congenital hallux valgus and stiff spine. In the pediatric group (3 - 8 years), all children showed no mutation in the fibrillin-1 (FBN1) gene. Their prime presentation was a progressive torticollis with simultaneous development of erythematous subfascial nodules, most commonly located on the posterior neck and back. In pre-adult group (10 - 16 years), four patients presented with monophalangia associated with painful movements because of the progressive heterotopic ossification of the spine and the weight bearing zones and marked elevation of alkaline phosphatase. Genetic confirmation has been performed in six patients who manifested the classical mutation of the ACVR1 gene. The rest of the patients were assessed via clinical and radiographic phenotypes. CONCLUSION: The early recognition of FOP can be performed by noticing the short halluces and thumbs at early infancy and later on the high alkaline phosphatase activity in areas of heterotopic ossification. Misconception of FOP is of common practice and eventually unnecessary diagnostic biopsies might deteriorate the progression of the condition. The detection of ACVR1 gene mutation was a confirmatory procedure. Interestingly, the timing of the onset and the location of progressive heterotopic ossifications were extremely variable and confusing among our group of patients.

Can Multiple Hereditary Exostoses Overlap With Mesomelic Dysplasia?

BACKGROUND: We studied an unusual combination of severe short stature, mesomelia (Leri-Weill dyschondrosteosis syndrome), and multiple exostosis in several family subjects over three generations. The pattern of inheritance was compatible with autosomal dominant. METHODS: Of 21 affected members over three generations, shortness of stature, associated with mesomelia resembling Leri-Weill dyschondrosteosis syndrome with no exostoses was evident in three family subjects. The rest of the family subjects manifested with normal height, and yet multiple exostoses. In this family, the skeletal manifestations were sufficiently variable for the presentation to be with either short stature or scoliosis, a Madelung' deformity, or with severe hallux valgus associated with exostosis and with Leri-Weill dyschondrosteosis syndrome. RESULTS: Subjects with structural chromosomal aberrations of the proband IV-7, who manifested with normal height but with multiple exostoses were excluded via 20 CAG-banded mitoses (there were no microdeletions or microduplication after performing Array-CGH-analysis). In addition, DNA examination for subject IV-8 (male cousin of the proband showed short stature and Leri-Weill dyschondrosteosis syndrome) revealed no evidence of SHOX deletions. CONCLUSION: We described a multigenerational non-consanguineous North African family , in which mesomelic dysplasia, whose clinical and radiological phenotypes resembled dyschondrosteosis, was a prominent feature in three family subjects. Multiple exostoses were evident in several other family subjects (most were with normal height). We would like to emphasize the variability in the phenotypic expression of multiple exostosis, especially the confusion that might arise when the condition appears both clinically and radiologically to be more complicated, and the overall picture might then be overlapped with one of the other bone dysplasias such as Leri-Weill dyschondrosteosis syndrome.

Reconstruction of limb deformities in patients with thrombocytopenia-absent radius syndrome.

OBJECTIVE: Developmental abnormalities of the appendicular skeleton are among the most common and easily identified birth defects. The aim of this report was to describe the phenotypic characterization of several patients with thrombocytopenia-absent radius (TAR) syndrome and the orthopaedic interventions performed on them. TAR syndrome is inherited in an autosomal recessive manner and results from compound heterozygosity of RBM8A mutations. METHODS: Reconstructions were designed and performed in five patients with TAR syndrome, mainly comprising orthopaedic interventions to correct their upper limb defects. Additional lower limb deformities (severe internal rotation of the tibiae) was been encountered in one patient. RESULTS: The affected patients' wrists were re-aligned and stabilized and the musculotendinous forces around the wrist rebalanced to reverse the ulnar forearm bow. CONCLUSION: Patients with TAR syndrome who receive optimal treatment can expect to return to most activities of daily living with some limitation of wrist extension and ulnar deviation and, of course, with a reduced total active range of digital motion.

Facial features and skeletal abnormalities in Larsen syndrome--a study of three generations of a Tunisian family.

We report on a 3 generation study of a Tunisian family, in which eight subjects had or have features of Larsen syndrome: three siblings, two females and one male are affected with flattened facies, multiple congenital joint dislocations, and club foot deformities. Five other family members were recognised as being variably affected with the syndrome. Over the three generations, despite the characteristic facial features being the most constant clinical signs of the syndrome, none of those still living had palatal clefts, the multiple infantile deaths in this family, however, were characterised by an association with cleft palate.

Bone diseases in children receiving growth hormone.

The authors report two cases of bone disorders in children with short stature, with confirmed growth hormone (GH) deficiency treated by GH supplementation. The first patient, aged 15 years, developed avascular necrosis of the femoral head and scoliosis. The second one, aged 17 years, had avascular necrosis of the femoral capital epiphysis on one side and acute slipped capital femoral epiphysis (SCFE) on the other side. All these complications were diagnosed while they were receiving GH-therapy. The exact aetiology and the role of GH in the pathogenesis of these conditions are still unknown.

Septic arthritis of a lumbar facet joint case report and review of the literature.

Septic arthritis of a lumbar facet joint (SALFJ) is a very rare condition. It has mostly been described in adults. Only one other paediatric case has been reported. We present a case of septic arthritis of the left L5-S1 lumbar facet joint, associated with epiduritis and paraspinal abscess, in an 8-year-old boy. Plain radiographs and Technetium bone scan were negative. The diagnosis was made by blood cultures, which isolated staphylococcus epidermidis, and by MRI. The child was treated successfully with antibiotics only.

[Comparative study of two Tramadol prescription protocols for postoperative analgesia in children]. / Etude comparative de deux protocoles de prescription du Tramadol pour l'analgésie post opératoire de l'enfant.

We reported the result of a prospective study concerning the use of Tramadol for postoperative analgesia in children. Seventy-two children 1 to 6 year's old were enrolled. Tramadol was given at a dose of 1 mg/kg for 30 minutes and Oral regimen started 4 hours after at a dose of 0.5 mg/kg/6 hours for 24 hours in 40 child. Only one dose of Tramadôl, 2 Mg/kg, was used in other 32 children. We assessed every 3 hours: pain scale (CHEOPS), respiratory rate, and cardiac rate, blood pressure and sedation scale. We obtained satisfactory analgesia in 70% of children since the first hour postoperatively with 2 mg/kg Tramadol and in 60% of them who received 1 mg/kg. In the first group, analgesia had lasted for 24 hours in 62.5% of children and in 80% of children with oral Tramadol. The main side effect was vomiting as reported in 25% of children especially after intravenous Tramadol and mild sedation in 34% of them. Tramadol is a safe and efficient analgesic molecule in children.

Facial dysmorphism associated with distinctive spine abnormalities in a girl and her mother: novel syndromic association.

Facial dysmorphism associated with distinctive spine abnormalities has been encountered in a girl and her mother. A three-dimensional reformatted spinal computed tomography scan showed a combination of distinctive abnormalities such as failure of anterior formation of the vertebral bodies, malsegmentation, and Forestier disease. Mutations were not found in the GDF6 gene. We describe a hitherto undescribed autosomal dominant entity.

Diffuse skull base/cervical fusion syndromes in two siblings with spondylocostal dysostosis syndrome: analysis via three dimensional computed tomography scanning.

STUDY DESIGN: A study on a pair of male sibs to reach for the etiological understanding of unusual skull base/spine maldevelopment. OBJECTIVE: Previously, radiographs alone were used to formulate this diagnosis. Here, three-dimensional computed tomography (3D CT) studies further clarified the typical diagnostic findings associated with spondylocostal dysostosis (SCD). Interestingly, patients with SCD are at increased risk for diffuse skull base/cervical fusion syndromes and can result in severe neurologic deficits associated with any degree of trauma. SUMMARY OF BACKGROUND DATA: Classically SCD is defined as a skeletal dysplasia with clinical and radiologic manifestations, consisting of short neck and trunk, nonprogressive scoliosis and abnormalities of vertebral segmentation and of the ribs. Radiograms have been adopted as the only modality for the classification and prognostication of patients with SCD. METHODS: Detailed clinical and radiographic examinations were undertaken with emphasis on the significance of the 3D CT scanning. RESULTS: We observed extensive fusion of the clivus with the cervical/entire spine, resulting in a remarkable solid, immobile, and fixed bony ankylosis of extremely serious outcome. CONCLUSION: Patients with spondylcostal dysostosis are predisposed to develop extensive skull-base-cervical spine fusion. The latter might lead to the development of a solid, immobile, and fixed bony ankylosis. In children/adults trivial injuries and/or high-energy trauma can lead to serious intracranial and spinal cord injury. Comprehensive orthopedic and neurosurgeons management must follow the recognition of these anomalies. To the best of our knowledge, no previous CT studies of the spine have been published in patients with SCD.

Ischiopubic and odontoid synchondrosis in a boy with progressive pseudorheumatoid chondrodysplasia.

PURPOSE: To present the case of a 14-year-old boy with clinical and radiographic features of pseudorheumatoid chondrodyspalsia with additional, potentially serious, cervical malformations. METHODS: Detailed clinical and radiological examinations were undertaken with emphasis on the usefulness of 3D-CT scanning. RESULTS: There was synchondrosis between the odontoid and the body of the axis and the cephalad part of the odontoid was detached. Bilateral ischiopubic ossification defects and ischiopubic and odontoid synchondroses were additional abnormalities. 3D-CT scan showed an orthotopic type of os odontoideum associated with an occult axial fracture. CONCLUSION: Children who are younger than seven years of age are predisposed to develop odontoid fracture. The latter occur because of the presence of physiological odontoid synchondrosis, but fractures can result from trivial injuries as well as from high-energy trauma. The persistence of an infantile odontoid, with a large pre-adulthood head in children with skeletal dysplasias, is a major risk factor for sudden death or significant morbidity. Comprehensive orthopaedic management must follow early identification of these malformations.

Craniocervical junction malformation in a child with Oromandibular-limb hypogenesis-Möbius syndrome.

We report a male child with Oromandibular-limb hypogenesis (OMLH), the main features being bilateral sixth and seventh nerve palsies, limb anomalies and hypoplasia of the tongue. Additional features were shortness of the neck associated with torticollis. Radiographs of the cervical spine were non-contributory, but 3D computed tomography (CT) scanning of this area identified: a) congenital hypoplasia of the atlas; b) the simultaneous development of occiput-atlas malformation/developmental defect. To our knowledge, this is the first clinical report assessing the cervico-cranium malformation in a child with OMLH-Möbius syndrome.