21/74. Cervical spine involvement in Larsen's syndrome: a case illustration. We present the progressive clinical course of a child with myelopathy attributable to cervical spine abnormalities associated with Larsen's syndrome. After anterior and posterior cervical fusion, his preoperative symptoms of weakness, gait dysfunction, and hyperreflexia have improved at 9-month follow-up. The progressive course and importance of early referral and intervention should be of interest to the general pediatric community. ( info) |
22/74. osteochondritis of the navicular: a case report. Brailsford's disease and Kohler's disease are two conditions of uncertain etiology affecting the navicular in adults and children, respectively. Kohler's disease has been universally agreed to have an excellent outcome in all cases. There have been no recorded cases of a child with Kohler's disease having persistent clinical and radiological abnormalities into adulthood and no cases of patients with Brailsford's disease having had abnormalities in childhood. This case report presents a teenage patient with osteochondritis of the navicular bone with symptoms that persisted into skeletal maturity. ( info) |
23/74. Primary idiopathic osteolysis: description of a family. A clinical, analytical, and radiological study was carried out on three members of the same family with multicentric idiopathic osteolysis. Transmission appeared to be via the dominant autosome present in the mother and two daughters. In the daughters osteolysis was seen in the carpal and tarsal bones, whereas in the mother radiology showed it to be in the phalanges of the hands and feet. ( info) |
24/74. Expanding the phenotypic spectrum of the Baller-Gerold syndrome. We report on two sisters off-spring of healthy consanguineous parents, where their major clinical features absent thumb, radial aplasia and craniosynostosis led to a diagnosis of Baller-Gerold syndrome BGS (OMIM:218600). Syndromes with associated preaxial reduction defects mainly Fanconi pancytopenia, VATER association, Rothmund-Thompson and Roberts phocomelia syndrome were excluded by proper clinical and cytogenetic studies. In addition to craniosynostosis and radial deficiency, our studied cases had absent or hypoplastic thumbs, postaxial polydactyly in the left foot, genital anomalies and orodental manifestations. review of the literature depicted phenotypic variability of BGS. The presence of affected sibs the offspring of consanguineous parents confirms autosomal recessive inheritance. The observation of associated postaxial polydactyly, blue sclera, rotatory nystagmus, other skeletal and orodental anomalies broadened the spectrum of phenotypic variability. awareness of the expanded phenotypic spectrum will improve the diagnosis and genetic counseling of BGS. ( info) |
25/74. Report on a case of Hutchinson-Gilford progeria, with special reference to orthopedic problems. Hutchinson-Gilford progeria is a very rare syndrome of premature aging and often features many orthopedic abnormalities. This is a case report on a young boy suffering from progeria. His orthopedic history included bilateral talus deformities of the feet, bilateral dislocated hips, pes planus, a fractured femur (which healed without complications), aseptic necrosis in the left nuclear head of the femur, bilateral fixed hip flexion deformities, bone dysplasia, osteoporosis and osteolysis. ( info) |
26/74. Popliteal pterygium syndrome with unusual features. Popliteal pterygium syndrome is a well defined complex that consists of popliteal pterygium, intercrural pterygium, various digital anomalies that include hypoplasia or agenesis of digits, syndactyly, valgus or varus deformities of the feet and oral anomalies such as cleft lip-palate. A baby with the typical anomalies as well as a few unusual features such as mongloid slant, hypertelorism, malformed alae nasi and elbow joint contractures is reported. ( info) |
27/74. Oto-palato-digital syndrome type II. Report of two related cases. Two cases with major features of bowed long bones, hypertelorism, mandibular hypoplasia and hand and foot abnormalities with early neonatal death due to respiratory failure are presented. The radiologic and clinical findings are in keeping with oto-palato-digital syndrome type II and differ significantly from other causes of bowed long bones such as campomelic and kyphomelic dysplasias. ( info) |
28/74. Imaging of the symptomatic type II accessory navicular bone. Accessory ossicles of the foot are commonly mistaken for fractures. The accessory navicular is one of the most common accessory ossicles of the foot. There is a higher incidence in women and the finding might be bilateral in 50-90%. This entity is usually asymptomatic, although populations with medial foot pain have a higher prevalence. Three types of accessory navicular bone have been described. The type II accessory navicular is the most commonly symptomatic variant with localized chronic or acute on chronic medial foot pain and tenderness with associated inflammation of overlying soft tissues. Plain radiographic identification of the accessory navicular is insufficient to attribute symptomatology. Ultrasound allows for comparison with the asymptomatic side and localization of pain. Bone scintigraphy has a high sensitivity but positive findings lack specificity. magnetic resonance imaging is of high diagnostic value for demonstrating both bone marrow and soft tissue oedema. ( info) |
29/74. Segmental conduction abnormalities and myelin thickenings in Val102/fs null mutation of MPZ gene. The authors report in patients with Val102/fs null mutation a possibly age dependent variability of clinical and electrophysiologic phenotype, segmental conduction abnormalities mainly in ulnar nerves at the elbow, and excessive myelin foldings and thickenings. The authors hypothesize that myelin thickenings at the paranodal region, in concurrence with compression at usual entrapment sites or minor repetitive trauma, may induce segmental conduction abnormalities. ( info) |
30/74. The trichorhinophalangeal syndrome with repeated dislocation of the patella. The trichorhinophalangeal syndrome associated with laxity of the skin and joints has been mistaken for ehlers-danlos syndrome (Jones 1988). We report a case of the trichorhinophalangeal syndrome which we mistook for the Larsen syndrome. literature and published photographs of the Larsen syndrome are reviewed to highlight the similarities between these two entities. These observations may be of value in the genetic mapping of the Larsen syndrome, which perhaps is a contiguous gene syndrome. ( info) |