The 3-dimensional Configuration of the Typical Hip and Knee in Diastrophic Dysplasia
arthroplasty; chondrocytes; diastrophic dwarfism; diastrophic dysplasia; dwarfism; joint; Orthopedics; pathoanatomy; Pediatrics; proteoglycans; sulfate transporter
Purpose: Surgical correction of the hip and knee in patients with diastrophic dysplasia is extremely difficult secondary to the markedly distorted pathoanatomy of both the bone and soft tissues. The objective of this study is to provide a 3-dimensional model and carefully and extensively describe the pathoanatomy of the diastrophic hip and knee. Methods: Three-dimensional computer model reconstructions were developed based on clinical, radiographic, and surgical observations performed "meticulously" by a single surgeon on 110 hips in 55 patients. An additional 13 patients seen by another surgeon were also reviewed. In addition to the clinical and radiographic evaluations, 10 computed tomographic scans were performed of the pelvis and hip areas and 53 arthrograms were done in 13 patients. Sixty-six patients underwent a myriad of operative procedures on the hip and proximal femur. Results: The typical pathoanatomy seen in cases of diastrophic dysplasia reflects the severe and rampantly progressive flexion deformity of the hip and knee with time, and the anatomical aberrations of development of the proximal femur and the knee joint, which are highlighted in our computer model. Replacement arthroplasty at the hip and knee may hold the only solution to adolescents and adults with advanced disease; however, the unavailability of long-term data precludes a reasonable management recommendation. Conclusions: The disturbed pathoanatomy of the diastrophic dysplasia hip and knee reflects the difficulties in achieving any substantial surgical correction even with customization. This report provides the most extensive 3-dimensional pathoanatomical observations as yet presented in the literature.
Weiner D S; Jonah D; Kopits S
Journal of Pediatric Orthopaedics
2010
2010-06
Journal Article
<a href="http://doi.org/10.1097/BPO.0b013e3181e27f12" target="_blank" rel="noreferrer noopener">10.1097/BPO.0b013e3181e27f12</a>
The 3-dimensional configuration of the typical foot and ankle in diastrophic dysplasia
deformities; diastrophic dwarfism; diastrophic dysplasia; dwarfism; Orthopedics; pathoanatomy; Pediatrics
Background: Surgical correction of the foot and ankle in patients with diastrophic dysplasia is extremely difficult secondary to the markedly distorted pathoanatomy. Several authors have described superficially some of the clinical and radiographic findings typical of the foot and ankle with diastrophic dysplasia; however, no description of the specific osseous deformities has been described in the literature. The purpose of this article was to provide such a model, detailing the nature of deformity of each of the bones and joints in the foot and ankle and their relationship to each other from a pathoanatomical standpoint. Methods: A 3-dimensional sculpted model and detailed drawings were developed based on radiographs, computed tomography reconstructions, and direct observation both in and out of surgery. Fifty-three patients representing 106 feet formed the basis of this analysis (age,. 3 days to 32 years). An additional 12 feet of the senior author's cases provided further confirmation of these deformities. Results: Superficially, the apparent deformity most closely resembles a Z-type foot or serpentine foot. The overall deformity bears no true resemblance to the idiopathic clubfoot. Typically, the hindfoot is in severe equinus with the subtalar joint being deformed into valgus and moving more posteriorly. In contrast to the idiopathic clubfoot, the navicular was markedly angulated laterally on the talus. The medial cuneiform was deviated medially on the navicular articulation. The forefoot was foreshortened and in marked varus positioning with varus of the entire metatarsals. The second to fifth metatarsals bend and curve near their bases as they tilt toward the first metatarsal. Conclusion: The disturbed pathoanatomy of the diastrophic dysplasia foot and ankle reflects the difficulties in achieving any substantial surgical correction without customization. Surgical management of the foot and ankle in diastrophic dysplasia must be individualized and based on a clear understanding of the unique segmental malalignment of the foot and ankle. Level of Evidence: Level I.
Weiner D S; Jonah D; Kopits S
Journal of Pediatric Orthopaedics
2008
2008-01
Journal Article
<a href="http://doi.org/10.1097/BPO.0b013e31815ff2d9" target="_blank" rel="noreferrer noopener">10.1097/BPO.0b013e31815ff2d9</a>
Cartilage hair hypoplasia: characteristics and orthopaedic manifestations
Cartilage hair; hypoplasia; McKusick-type metaphyseal chondrodysplasia; Orthopedics; pathoanatomy; Pediatrics
Purpose Cartilage hair hypoplasia (CHH) is a rare metaphyseal chondrodysplasia characterized by short stature and short limbs, found primarily in Amish and Finnish populations. Cartilage hair hypoplasia is caused by mutations in the RMRP gene located on chromosome 9p13.3. The disorder has several characteristic orthopaedic manifestations, including joint laxity, limited elbow extension, ankle varus, and genu varum. Immunodeficiency is of concern in most cases. Although patients exhibit orthopaedic problems, the orthopaedic literature on CHH patients is scant at best. The objective of this study was to characterize the orthopaedic manifestations of CHH based on the authors' unique access to the largest collection of CHH patients ever reported. Methods The authors examined charts and/or radiographs in 135 cases of CHH. We analyzed the orthopaedic manifestations to better characterize and further understand the orthopaedic surgeon's role in this disorder. In addition to describing the clinical characteristics, we report on our surgical experience in caring for CHH patients. Results Genu varum, with or without knee pain, is the most common reason a patient with CHH will seek orthopaedic consultation. Of the cases reviewed, 32 patients had undergone surgery, most commonly to correct genu varum. Conclusion This paper characterizes the orthopaedic manifestations of CHH. Characterizing this condition in the orthopaedic literature will likely assist orthopaedic surgeons in establishing a correct diagnosis and appreciating the orthopaedic manifestations. It is important that the accompanying medical conditions are appreciated and evaluated.
Riley P; Weiner D S; Leighley B; Jonah D; Morton D H; Strauss K A; Bober M B; Dicintio M S
Journal of Childrens Orthopaedics
2015
2015-04
Journal Article
<a href="http://doi.org/10.1007/s11832-015-0646-z" target="_blank" rel="noreferrer noopener">10.1007/s11832-015-0646-z</a>
Orthopaedic manifestations of chondroectodermal dysplasia: the Ellis-van Creveld syndrome.
Chondroectodermal dysplasia; Ellis-van Creveld syndrome; Pathoanatomy
BACKGROUND: Ellis-van Creveld is a dwarfing syndrome transmitted as an autosomal recessive trait. The constant features of the condition include acromelic-micromelic dwarfism, ectodermal dysplasia involving the nails, teeth and gums, postaxial polydactyly of the hands and congenital heart disease. Congenital heart disease affects 50-60 % of all patients and nearly 50 % of patients die by 18 months of age from cardiopulmonary complications. This study is intended to characterise the orthopaedic manifestations of Ellis-van Creveld based on the authors' unique opportunity to interview and examine the largest group of patients to date in the literature. METHODS: Detailed interviews, physical examinations and/or radiographs were available on 71 cases of Ellis-van Creveld syndrome. Data were collected from physical examinations, radiographs, computed tomography (CT) reconstruction and magnetic resonance imaging (MRI) of the knee. Pathoanatomy of the knee was reinforced by the direct surgical observation of 25 limbs surgically managed during adolescence and puberty. RESULTS: A number of interesting clinical and radiographic abnormalities were noted in the upper extremities and lower extremities, but by far the most significant orthopaedic finding was a severe and relentlessly progressive valgus deformity of the knee. Although many patients had difficulties making a "fist" with the hand, no patient reported any functional disability. The severe valgus deformity of the knee is the result of a combination of profound contractures of the iliotibial band, lateral quadriceps, lateral hamstrings and lateral collateral ligament, leading to lateral patellar subluxation and dislocation. The lateral portion of the upper tibial plateau presents with cupping and progressive depression of the lateral plateau, along with severe valgus angulation of the proximal tibia and fibula. A proximal medial tibial exostosis is seen in nearly all cases. CONCLUSION: This is the largest group of Ellis-van Creveld syndrome patients identified in the literature. An understanding of the orthopaedic pathoanatomy of the knee deformity is critical to determining the appropriate surgical management. This paper characterises the orthopaedic manifestations of Ellis-van Creveld syndrome and especially identifies the pathoanatomy of the severe and progressive valgus knee deformity. LEVEL OF EVIDENCE: Level II.
Weiner Dennis S; Jonah David; Leighley Bonnie; Dicintio Martin S; Holmes Morton D; Kopits Steven
Journal of children's orthopaedics
2013
2013-12
Article information provided for research and reference use only. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1007/s11832-013-0541-4" target="_blank" rel="noreferrer noopener">10.1007/s11832-013-0541-4</a>