Shortening Scarf Osteotomy for Macrodactyly and Valgus of the Hallux in Acrodysostosis Lesser Toes Brachydactyly.

LEVELS OF EVIDENCE: Level V: Case report.

Surgery Navigation in Treating Congenital Midfacial Dysplasia of Patients With Facial Cleft.

AIM: To explore a new accurate way for the treatment of congenital midfacial dysplasia in facial cleft patients. MATERIALS AND METHODS: Between November 2015 and November 2016, 8 patients with nasal deformity and midfacial dysplasia (Tessier Nos. 3-11 cleft) were collected (median age, years; range = 15-20 years). Expanded frontal flap for nasal reconstruction and image-guided navigation-assisted surgery for modified nasal-maxillary-hard palatine osteotomy to advance the peri-pyriform bone structure were performed in all the patients. After 6 to 12 months of follow-up, the authors analyzed the differences between preoperative planning and postoperative results through computed tomography data. RESULTS: Patients were satisfied with surgery, and computed tomography data showed that there was little difference between preoperative planning and postoperative results with the navigation-assisted surgery. CONCLUSION: Using expanded frontal flap with navigation-assisted surgery for peri-pyriform advancement, the authors could treat congenital nasal deformity and midfacial dysplasia effectively, accurately, and safely in craniofacial cleft patients.

Cervical subluxation associated with posterior cervical hemivertebra.

PURPOSE: Hemivertebrae, associated with a failure in the formation and fusion of vertebral body ossification nuclei, are a common cause of thoracic or lumbar scoliosis. A cervical location is rare and even rarer as a cause of cervical subluxation in flexion and extension (for which only one previous case has been found). CASE REPORT: We report on the case of a 7-year-old female patient, who was examined for a cervical fusion defect, consisting of a posterior C4 hemivertebra and a left hemiblock from C5 to C7. After performing surgery consisting of a C4 corpectomy and anterior fixation with intersomatic graft and plate, adequate cervical stabilization with only a self-limiting left C6 brachialgia and ipsilateral Horner syndrome occurs in the postoperative period. CONCLUSION: Posterior cervical hemivertebra associated with instability is a very rare finding. The anterior approach with corpectomy and anterior plate enables suitable stabilization.

Multiple cervical hemivertebra resection and staged thoracic pedicle subtraction osteotomy in the treatment of complicated congenital scoliosis.

PURPOSE: To present our experience of staged correction with multiple cervical hemivertebra resection and thoracic pedicle subtraction osteotomy (PSO) treating a rare and complicated congenital scoliosis. METHODS: A 14-year-old male presented with progressive torticollis and spine deformity. The malformation developed since birth, and back pain after long-time sitting or exercise arose since 6 months before, which was unsuccessfully treated by physiotherapy. X-ray showed a right cervical curve of 60° and a left compensatory thoracic curve of 90°. Three-dimensional computed tomography (3-D CT) scan revealed three semi-segmented hemivertebrae (C4, C5 and C6) on the right side. Based on our staged strategy, the three consecutive cervical hemivertebrae, as the major pathology causing the deformity, were firstly resected by the combined posterior and anterior approach. Six months later, T6 PSO osteotomy was used to correct the structural compensatory thoracic curve. RESULTS: The cervical curve was reduced to 23° while the thoracic curve to 60° after the first-stage surgery, and the thoracic curve was further reduced to 30° after the second-stage surgery. The radiograph at 5-year follow-up showed that both the coronal and sagittal balance were well restored and stabilized, with the occipital tilt reduced from 12° to 0°. CONCLUSIONS: Our strategy may provide an option for similar cases with multiple consecutive cervical hemivertebrae and a large structural compensatory thoracic curve, which proved to achieve excellent correction in both the coronal and sagittal planes with acceptable neurologic risk.

Acrodysostosis and spinal canal involvement.

BACKGROUND: Acrodysostosis is a rare syndrome characterized by peripheral dysostosis, nasal hypoplasia, and frequently mental retardation. Only two adult cases of acrodysostosis have been reported to have neurological symptoms. CASE DESCRIPTION: We report one additional adult case that presented with signs of spinal cord compression from spinal stenosis, and make the first histologic description in the literature of the bony anomalies seen in acrodysostosis. The patient had a T3 to T5 laminectomy and experienced a complete recovery. CONCLUSIONS: Special attention should be given to these patients to detect signs of spinal stenosis, as early decompression can lead to neurological recovery.

The isolated mandibular ramus - a hitherto rarely described anomaly of the mandible. Pathogenesis and treatment.

INTRODUCTION: A very famous paper by Sam Pruzansky, published in 1969, was entitled "Not all dwarfed mandibles are alike". This is the topic of this paper: to describe the shape and discuss the possible pathogenesis of an extremely rare congenital dysplasia found in a unilaterally hypoplastic mandible, namely the isolated mandibular ramus. MATERIAL AND METHODS: A unique malformation of the lower jaw was found in more than 75 patients with developmental abnormalities of the mandible diagnosed and treated by the two authors in two different university hospitals over the last 40 years. We performed the following teratological experiments with laboratory rodents in order to try to understand the pathogenesis of this special dysplasia (and others): at first the normal development of the lower jaw was studied in rat and mouse foetuses. Then a variety of teratogenic drugs were applied to pregnant females and then the foetuses of these pregnancies were studied following Caesarian section. RESULTS: One rat foetus was identified which presented the identical dysplasia that had been noted in the patient described here. The dam pregnant with this foetus had been given 25 mg/kg bodyweight of 6-mercaptopurine on day 12 of pregnancy. The explanation found for the pathogenesis of this anomaly was deducted from the scientific literature regarding normal development of the mandibular condyle. CONCLUSION: The nucleus of the so-called secondary cartilage that will produce the ascending ramus (plus condyle and coronoid) is a separate growth centre which fuses a short time later with the dental bone which becomes the mandible proper by this fusion.

Coxa vara in conjunction with metaphyseal dysostosis.

We describe a rare case of unilateral development of coxa vara secondary to metaphyseal dysostosis encountered in a 6-year-old boy. Family history and radiographic documentation revealed a 31-year-old father with a typical clinical history. Proximal femoral intertrochanteric valgus osteotomy and a revision cup (Allofit) have been performed for the child and his father respectively.

Fracture management in pycnodysostosis: 27 years of follow-up.

Pycnodysostosis is a rare hereditary disease, characterized by systemic bone sclerosis, which is often brought to the orthopedic surgeon's attention because of repeated fractures. The operative treatment of the patient with a fracture is a real challenge for the orthopedic surgeon because of the unusual problems imposed by the hard but-brittle bone characteristics of the disease. We report a 27-year follow-up of a patient treated for fractures of both femurs and tibia with intramedullary nailing. According to our experience and literature review, we recommend the use of an internal fixation, preferably intramedullary nailing as the treatment of choice for these rare cases. Once the fractures are healed, the removal of the hardware is not recommended, as these keep the bones from further fractures.

Mandibular osteomyelitis and fracture in a patient with pyknodysostosis.

Pyknodysostosis is a rare, recessive, hereditary, autosomal disease belonging to the group of bone dysplasias. Complications such as osteomyelitis and fractures of the mandible are not uncommon and appear in the most varied forms. We report a case of chronic osteomyelitis with subsequent mandible fracture, which was successfully treated with the use of a reconstruction plate and antibiotic therapy. This article outlines the clinical and radiographic characteristics of this condition based on the clinical case described and proposes an approach regarding the best form of treatment. Considering the risks of fracture subsequent to removal of the graft from long bones as well as the presence of chronic infection, difficult-to-defeat infection, and bone contact on the compression band, the best choice is a more conservative treatment.

Jeune's syndrome (asphyxiating thoracic dystrophy): congenital and acquired.

Familial asphyxiating thoracic dystrophy (ATD), also known as Jeune's syndrome, is a rare autosomal recessive disorder with variable severity and multiple musculo-skeletal manifestations. Respiratory distress may be severe, resulting in death during infancy. Surgical repair techniques have typically involved median sternotomy (with graft interposition), resulting in poor outcomes. Acquired ATD may rarely result from impairment of chest wall growth following "open" (Ravitch-type) repair of pectus excavatum or carinatum deformities. Symptomatic patients may have profound restriction of pulmonary function. Repair techniques typically involve re-do Ravitch-type procedures or median sternotomy with rib graft interposition. Mild to moderate improvements in pulmonary function tests have been documented.

[Responses of dogs at different ages and long-term effects for midface skeleton protraction].

OBJECTIVE: To explore the factor of age related to protraction response. METHODS: Four 12-week mongrel dogs in the same nest were randomly assigned into two groups: the control (n = 1) and the experimental groups (n = 3). Four pairs of titanium bone markers were fixed on either side of the bone sutures of all animals. Distraction device was fitted in the experimental group, A forward elastic force was exerted through the device for 1 month. Midface skeleton protraction was applied to experimental group at different age. Dog 2 was started at 12 weeks of age. Dog 3 was started at 16 weeks of age. Dog 4 was started at 20 weeks of age. The protraction force was 600g. All the animals were sacrificed at their age of 9 months. The results were evaluated clinically, radiographically, and cephalometrically. RESULTS: All the animals in the experimental group showed progressively forward movement of the maxilla at the end of the experiment. In the same condition, the younger age appeared to have more effective in treatment than the older age. After 3 approximately 4 weeks stagnation, the maxilla gradually recovered normal growth. CONCLUSION: The younger age lead more effective protraction than the older age. Persistent elastic distraction at the medium position of midface brought stable effects and no influence on facial growth.

[Spondylocostal dysostosis: a rare genetic disease]. / Dysostose spondylo-costale: une maladie génétique rare.

Spondylocostal dysostoses represent a group of very rare genetic disorders, characterised by vertebral and costal segmentation defects, sometimes accompanied by visceral malformations. The major gene involved is DLL3, on chromosome 19. A mutation may lead to a somitogenesis defect, with segmentation defect of axial skeleton and deformations. Depending on the nature of the mutation of DLL3, spondylocostal dysostosis is transmitted as an autosomal dominant (less severe) or autosomal recessive trait (often more severe, but non lethal). Spondylocostal dysostoses must not to be confused with the Jarcho-Levin spondylothoracic dysostosis, a severe, autosomal recessive syndrome. Its most typical aspect is the crab-like appearance of the rib cage leading to major respiratory disorders. Death, due to respiratory insufficiency, usually occurs before the age of two, most often during the first few months. At this time, guidelines for treatment do not exist. We report a case of spondylocostal dysosotosis in a patient born to consanguineous turkish parents, and review the clinical and genetic data on that group of skeletal disorders.

Spondylocostal dysostosis: thirteen new cases treated by conservative and surgical means.

STUDY DESIGN: Prospective assessment of a cohort of patients affected by spondylocostal dysostosis. OBJECTIVE: To report on the results of conservative and operative management of spondylocostal dysostosis and, based on this, to propose an assessment and treatment protocol for the condition. SUMMARY OF BACKGROUND DATA: Spondylocostal dysostosis and spondylothoracic dysostosis are subtypes of Jarcho-Levin syndrome, a hereditary condition manifested by vertebral body and related rib malformations. Mortality prevails in spondylothoracic dysostosis because of more severe respiratory compromise. METHODS: Details of prenatal and postnatal diagnosis, history, and management of 13 patients with spondylocostal dysostosis are presented. All patients were treated postnatally with repeated chest physiotherapy. Two patients refractory to conservative treatment underwent surgical intervention: the first had a chest wall reconstruction via a latissimus dorsi flap, the second a posterior spinal instrumented fusion for progressive scoliosis. RESULTS: Prenatal ultrasound in 4 of 13 cases showed full details of vertebral and rib anomalies. Thoracic and lumbar hemivertebrae were most common, leading to congenital scoliosis in 10 of 13 cases. A number of extraskeletal abnormalities were also identified. At an average follow-up of 4.5 years, the survival rate was 100% with a remarkable decrease of the rate of respiratory complications. Surgical treatment in selected cases led to satisfactory results. CONCLUSIONS: Prenatal diagnosis of spondylocostal dysostosis allows exclusion of spondylothoracic dysostosis and aids genetic counseling in quantifying the risk to siblings. Postnatally, prompt management of these patients with physiotherapy leads to prolonged survival. Surgical intervention may then be indicated to stabilize chest wall or spine deformities, with promising results.

Spondylothoracic dysostosis associated with diaphragmatic hernia and camptodactyly.

We present a case of a female newborn with a combination of congenital diaphragmatic hernia, skeletal defects, craniofacial dysmorphism, dextrocardia and persistent ductus arteriosus, and normal female karyotype. History of family and pregnancy-labour were non-contributory. The findings in the present patient are most compatible with the diagnosis of a spondylothoracic dysostosis with a set of uncommon anomalies.

[Maxillonasal dysostosis: Binder's syndrome]. / Verkhnecheliustno-nosovoi dizostoz--sindrom Bindera.

It is known that the septum of the nose participates in sagittal growth of medial face. Teratogenic deficiency of vitamin K promotes premature ossification of the septum cartilage. It results in hypoplasia of maxillonasal complex, development of characteristic concave profile with the impressed and short nose with half the moon naries, infringement of an occlusion. The orthodontic treatment should be carried out from younger children's age. The surgical treatment is directed on elimination of bone-skeletal infringements of an occlusion, reconstruction of normal contours of middle face and lengthening of a nose. In our clinic for the last 13 years 11 patients with Binder's syndrome were examined and operated.

[Individual cement-free total hip endoprosthesis in a patient with a rare form of dwarfism (Fuhrmann syndrome)]. / Individuelle zementfreie Hüft-TEP bei einer Patientin mit einer besonderen Form des Minderwuchses (Fuhrmann-Syndrom).

We present a single case study of a 47-year-old female patient with a rare form of primary dysostotic dwarfism. This syndrome was first described by Fuhrmann in 1972. Seven years ago, this patient underwent bilateral cementless total hip arthroplasties for severe osteoarthritis about her hips. Custom-made components were used. While achondroplastic patients present with wide femoral medullary canals, it is clinically relevant that Fuhrmann Syndrome features narrow femoral medullary canals. This complicating anatomical factor in Fuhrmann syndrome as well as the increased anteversion angles were overcome by the use of CAD stems. We conclude that the custom-made stems, although in our case measuring half the size of the smallest commercially available design, have proved to be durable and able to withstand physiological loads at follow-up period of 72 months.

[Syndromes 9. Hemifacial microsomia]. / Syndromen 9. Dysostosis otomandibularis.

Hemifacial microsomia is also known under quite a number of synonyms. Pathognomonic for these usually sporadic cases are: marked three dimensional asymmetry of the mandible, the ear, the maxilla, the zygoma and the orbit. The more distal the structure, the more marked the asymmetry. Many other optional symptoms are described. The differential diagnosis is almost never a problem in this aspecific complex of symptoms. Surgical therapy asks for expert treatment. The treatment contains usually several operations of which one to three are really major. Even then, very good results are mainly obtained in the less pronounced cases only.

Fibular pachydysostosis: an atypical case.

Pachydysostosis of the fibula is an isolated deformity of the fibula with bowing and lengthening. Only one report has appeared in the literature, describing four lesions which underwent spontaneous regression during early childhood; no therapy was recommended. We report a 12-year-old boy with this type of deformity, who developed progressive angulation and deformation of the ankle joint. An osteotomy was necessary to realign the fibula. One year later the patient was free of symptoms.