[Tarsal-carpal coalition syndrome: a familial case]. / Síndrome de coalición tarso-carpiana: un caso familiar.

Tarsal-carpal coalition syndrome (TCC, OMIM #186570) is an autosomal dominant disorder characterised by fusion of the carpals, tarsals, and phalanges, with the short first metacarpals causing brachydactyly and humeroradial fusion. Mutations in the NOG gene have been reported in many families. We describe a family with carpal tarsal fusion seen at a Skeletal Dysplasia Clinic and look at the differential diagnoses.

Renal replacement therapy for children: a family decision.

Although Anne had many complex health issues and experienced considerable support from her extended family, she wanted freedom from the restrictions posed by peritoneal dialysis. Her quality of life changed after transplantation, with more opportunities to engage in leisure activities, ability to travel, a less restricted diet, and an improved self-image. She required fewer treatments, surgeries, and hospitalizations. She left behind the role of sick child and took up a role more like a healthy child. During the disease and decision-making process, Anne learned coping mechanisms, allowing her to gain autonomy to make decisions. The case study illustrates both the need to listen to children as well as to care for the entire family. The nursing management of this child and her family was continually changing, and multiple strategies were used to support the family. The nurse came to understand the roles of family members in constant change, the sources of their resources, and foci of tensions. Based on this knowledge, the nurse can act by mobilizing resources, strengthening the confidence of family members, and helping them develop coping mechanisms. In conclusion, care of the ill child must be family-centered. Stresses on the family have an impact on the child and vice versa. The potential to influence the quality of life of both the child and the family is considerable.

Achados de imagem por tomografia computadorizada e ressonância magnética do os styloideum em atleta sintomático / Computed tomography and magnetic resonance imaging findings of os styloideum in a symptomatic athlete

Os styloideum é um ossículo acessório, imóvel, localizado dorsalmente no carpo, que representa uma variante anatômica. A associação entre os styloideum e dor no punho é conhecida clinicamente como "carpal boss syndrome". Os autores relatam um caso de os styloideum com edema ósseo trabecular no estudo por ressonância magnética em atleta jovem tenista, com revisão da literatura deste achado.

Os styloideum is an accessory ossicle located dorsally on the wrist that represents an anatomic variant. Association between the os styloideum and wrist pain is clinically known as "carpal boss syndrome". The authors report a case of bone marrow edema in the os styloideum diagnosed by magnetic resonance imaging in a young tennis player, and present a literature review on this finding.

Steel syndrome: dislocated hips and radial heads, carpal coalition, scoliosis, short stature, and characteristic facial features.

BACKGROUND: A syndrome of children with short stature, bilateral hip dislocations, radial head dislocations, carpal coalitions, scoliosis, and cavus feet in Puerto Rican children, was reported by Steel et al in 1993. The syndrome was described as a unique entity with dismal results after conventional treatment of dislocated hips. The purpose of this study is to reevaluate this patient population with a longer follow-up and delineate the clinical and radiologic features, treatment outcomes, and the genetic characteristics. METHODS: This is a retrospective cohort study of 32 patients in whom we evaluated the clinical, imaging data, and genetic characteristics. We compare the findings and quality of life in patients with this syndrome who have had attempts at reduction of the hips versus those who did not have the treatment. RESULTS: Congenital hip dislocations were present in 100% of the patients. There was no attempt at reduction in 39% (25/64) of the hips. In the remaining 61% (39/64), the hips were treated with a variety of modalities fraught with complications. Of those treated, 85% (33/39) remain dislocated, the rest of the hips continue subluxated with acetabular dysplasia and pain. The group of hips that were not treated reported fewer complaints and limitation in daily activities compared with the hips that had attempts at reduction. CONCLUSIONS: Steel syndrome is a distinct clinical entity characterized by short stature, bilateral hip and radial head dislocation, carpal coalition, scoliosis, cavus feet, and characteristic facial features with dismal results for attempts at reduction of the hips. LEVEL OF EVIDENCE: Prognostic Study Level II.

A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14.

Spondylocarpotarsal synostosis syndrome is a rare autosomal recessive disorder characterised by vertebral fusions, frequently manifesting as an unsegmented vertebral bar, as well as fusions of the carpal and tarsal bones. In a study of three consanguineous families and one non-consanguineous family, linkage analysis was used to establish the chromosomal location of the disease gene. Linkage analysis localised the disease gene to chromosome 3p14. A maximum lod score of 6.49 (q = 0) was obtained for the marker at locus D3S3532 on chromosome 3p. Recombination mapping narrowed the linked region to the 5.7 cM genetic interval between the markers at loci D3S3724 and D3S1300. A common region of homozygosity was found between the markers at loci D3S3724 and D3S1300, defining a physical interval of approximately 4 million base pairs likely to contain the disease gene. Identification of the gene responsible for this disorder will provide insight into the genes that play a role in the formation of the vertebral column and joints.

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.

Three new cases of spondylocarpotarsal synostosis syndrome: clinical and radiographic studies.

Spondylocarpotarsal synostosis syndrome (SSS) or congenital synspondylism is a recently delineated clinical entity. At least 15 patients have been reported. We present 3 new patients, 2 of whom were sibs born to first-cousin parents. All of our patients had multiple synostoses involving cervical, thoracic and/or lumbar vertebral bodies and carpal/tarsal bones, scoliosis/lordosis, and short stature. Sensorineural deafness was found in 2 of the 3 patients. Analysis of clinical manifestations suggests clinical variability and genetic heterogeneity in SSS. Of a total of 18 SSS patients, 10 were five pairs of sibs from five families, with first-cousin consanguinity of parents in 3, indicating that at least one type of SS is an autosomal-recessive disorder.

Coalizäo carpal escafóide-trapézio sintomática: relato de caso / Symptomatic scaphotrapezius carpal coalition

Os autores descrevem caso de coalizäo carpal escafóide-trapézio sintomática. Este tipo de coalizÒo é raro e o tratamento cirúrgico com realizaçäo de artrodese triescafóide proporcionou diminuiçäo da amplitude articular com desaparecimento da dor.

A syndrome of dislocated hips and radial heads, carpal coalition, and short stature in Puerto Rican children.

An orthopaedic syndrome that apparently had not been reported previously was identified in twenty-three children. Characteristics shared by all twenty-three children included Hispanic descent, residence in Puerto Rico, bilateral dislocation of the hip, dislocated radial heads, short stature, and other osseous anomalies. Twelve dislocated hips in six patients were not treated. All of these hips were functioning satisfactorily at the time of the review, but only four of the children had reached skeletal maturity. Sixteen hips in eight patients remained reduced after closed reduction. Of these eight patients, the four who were skeletally immature at the time of the review had a satisfactory result, and the four who were skeletally mature had an unsatisfactory result because of discomfort or fibrous ankylosis. Eighteen hips in nine patients were treated with a reduction augmented by some form of operation. All of these hips redislocated. Of the forty-six elbows in the twenty-three children, thirty-three were dislocated, as seen clinically and radiographically; eight were normal, both clinically and radiographically; and there was dysplasia at the radiocapitellar articulation of the remaining five. Twenty of the twenty-three children were found to have carpal coalitions. Fourteen children had scoliosis, and five of them were managed with spinal arthrodesis and correction. Three patients had an anomaly of the cervical spine, with one deformity causing symptoms and signs that were treated with decompression. Eight patients had talipes cavus bilaterally, which was not treated.

Symptomatic congenital coalition of the pisiform and hamate.

Recent reports have shown that carpal coalition, previously regarded as an asymptomatic congenital anomaly, may be an unusual occult cause of wrist pain. Two cases are presented as the first reported examples of congenital piso-hamate fusion creating symptoms due to associated arthritis or occult fracture.

Congenital malformations associated with the administration of oral anticoagulants during pregnancy.

Three small infants whose mothers had received oral anticoagulant therapy during the first trimester of pregnancy are described. These infants all had hypoplasia of the nasal bones, and two had stippling of epiphyses and bones and deformities of the bones of the hand. One child is mentally retarded. It is suggested that these abnormalities may be related to maternal oral anticoagulant therapy during the first trimester.