Cases reported "Synostosis"

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1/192. Musculoskeletal manifestations of the Antley-Bixler syndrome.

    The Antley-Bixler syndrome is a rare disorder with many musculoskeletal anomalies that demand orthopedic assessment. The syndrome includes skeletal, craniofacial, and urogenital anomalies. The most common skeletal deformities are radiohumeral synostosis, craniosynostosis, multiple joint contractures, and arachnodactyly. Other orthopedic manifestations that may occur are femoral bowing, ulnar bowing, camptodactyly, synostoses of carpal and tarsal bones, clubfoot, vertebral body anomalies, perinatal fractures, and advanced skeletal age. The inheritance pattern is thought to be autosomal recessive. A patient with this syndrome is described, which is the 18th of 24 reports published in the world literature. This case is compared with the other reported cases. ( info)

2/192. Symptomatic talonavicular coalition.

    Talonavicular coalition is reported as an asymptomatic congenital anomaly of the foot that is noticed incidentally on radiographs of the foot, and is often associated with symphalangism, clinodactyly, ball-and-socket ankle joint, a great toe that is shorter than the second toe, and an autosomal dominant inheritance pattern. We describe here three patients with five involved feet. All three patients had chronic foot pain not secondary to trauma, and all five feet required treatment to alleviate the pain. ( info)

3/192. Molecular and clinical characterization of a patient with duplication of 1p36.3 and metopic synostosis.

    Chromosome 1p duplications are rare. There have been only 11 reported cases of isolated 1p duplication, all of which were proximal, interstitial duplications. We present a patient with a terminal duplication of 1p (1p36.3). To our knowledge, this is the first such reported case. Our patient presented with metopic synostosis, rectal stenosis, atrial septal defect, and mildly delayed gross motor development. Molecular characterization using microsatellite marker analysis and fluorescence in situ hybridization (FISH) revealed an area of duplication between p58 and D1S2893, approximately 13 cM in size. We compare our patient's clinical findings with the clinical phenotype found in patients with the corresponding deletion of 1p36.3 and discuss the role of gene dosage in other deletion/duplication syndromes. ( info)

4/192. Unilateral longitudinal radial ray deficiency of the hand and metacarpal 4-5 synostosis.

    We report 3 non related patients with severe hypoplasia/aplasia of the thumb with an ipsilateral synostosis of the fourth and fifth metacarpals. A review of few reports on this unusual association is presented and the possible pathogenetic mechanism is discussed. ( info)

5/192. Radioulnar synostosis and XYY syndrome.

    Radioulnar synostosis in a boy with XYY syndrome is discussed. Only four other cases of radioulnar synostosis with XYY syndrome have been reported in the literature. ( info)

6/192. Posteromedial subtalar coalition: imaging appearances in three cases.

    OBJECTIVE: To define the imaging appearances in three cases of posteromedial subtalar coalition. DESIGN: Three patients who presented with hindfoot pain were found to have non-osseous coalition involving the posteromedial hindfoot. This entity is distinct from conventional middle facet coalition as the sustentaculum is uninvolved. RESULTS: Plain radiographs, available in two cases, demonstrated subtle irregularity of the posterior facet. MRI (three cases) demonstrated a mixed bony and cartilaginous mass lying posterior to the sustentaculum. There was trabecular oedema within the mass and adjacent talus, and narrowing of the space between the middle and posterior facets. Prominence and dilatation of the posterior tibial veins with tenosynovitis of the adjacent tibialis posterior tendon was seen. CT demonstrated the bony mass but did not detect the adjacent bony oedema. CONCLUSION: Posteromedial subtalar coalition may present with hindfoot pain and stiffness. The presence of a pseudarthrosis posterior to a normal middle facet is characteristic. The abnormality can be difficult to detect on plain radiographs. ( info)

7/192. Radioulnar synostosis, radial ray abnormalities, and severe malformations in the male: a new X-linked dominant multiple congenital anomalies syndrome?

    We describe a multiple congenital anomalies (MCA) syndrome dominantly transmitted through three generations. Radial ray abnormalities with wide variability of expression were observed in four female patients. Moreover, a 14-week-gestation male fetus had severe radial ray malformation, anencephaly, unilateral renal agenesis, and a common dorsal mesentery. Results of high-resolution karyotyping were normal in the malformed fetus and his affected mother. Furthermore, several spontaneous abortions of male fetuses had occurred in this pedigree. To our knowledge, a similar association has not been described previously. It could represent a new X-linked dominant MCA syndrome, or an autosomal dominant condition with severe expression limited to males. ( info)

8/192. Unusual proximal tibiofibular synostosis.

    Proximal tibiofibular synostosis without multiple hereditary exostosis is extremely rare and only 7 cases have been reported in the literature. All of the previously reported cases accompanied deformities such as distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula, and valgus deformity of the knee. The present case of a 24-year-old man had neither a history of trauma nor deformity around the knee. Therefore, it was suggested that this type of synostosis occurred after epiphyseal plate closure. ( info)

9/192. Spondylocarpotarsal synostosis with ocular findings.

    We report on three sibs presenting with spondylocarpotarsal synostosis, short-trunk dwarfism of postnatal onset, scoliosis, unsegmented thoracic vertebrae with unilateral bar, and carpal bone fusion. Tarsal bone fusion and dental abnormalities were noted in some of them, indicating pleiotropy and intrafamilial variability. Lens opacities, rarefaction of retinal pigmentation, and narrowing of retinal vessels, detected in two patients, are findings that have not been described to date in this condition. ( info)

10/192. Spondylocarpotarsal synostosis syndrome and cervical instability.

    Spondylocarpotarsal synostosis syndrome is a recently delineated autosomal recessive condition comprising short stature with short trunk, failure of normal spine segmentation resulting in block vertebrae and fusion of posterior elements, carpal and/or tarsal coalition, scoliosis, lordosis, pes planus, dental enamel hypoplasia, decreased range of motion or dislocation of the elbow, renal anomalies, and hearing loss. The vertebral segmentation defects may involve noncontiguous areas of the cervical, thoracic, and lumbar spine. Odontoid hypoplasia was noted in two cases. We report on a sporadic case of spondylocarpotarsal synostosis in a 5-year-old girl with hypoplasia of C1 and odontoid and subluxation of C2 upon C3. This brings the number of well-documented cases of spondylocar- potarsal synostosis to 19, and is the first documenting cervical spine instability. Careful evaluation for this complication should be considered in other cases. ( info)
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