ABSTRACT
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.
Subject(s)
Synostosis/diagnosis , Adult , Carpal Bones/abnormalities , Child , Female , Foot Deformities, Congenital/diagnosis , Foot Deformities, Congenital/genetics , Hand Deformities, Congenital/diagnosis , Hand Deformities, Congenital/genetics , Humans , Pedigree , Phenotype , Stapes/abnormalities , Synostosis/genetics , Tarsal Bones/abnormalitiesABSTRACT
Se presenta un paciente que acude al cuerpo de guardia de Ortopedia, por haber sufrió un trauma en la mano derecha cuando realizaba labores agrícolas. Se diagnóstico sinostosis total del carpo fusionada con el segundo y tercer metacarpianos, unilateral. El diagnóstico fue casual. Se realizó una revisión de la literatura científica sobre esta entidad y no se encontró caso similar(AU)
This paper presented a patient who went to the Emergency Orthopedic Service for a trauma in his right hand that occurred while he was working in farming. The diagnosis was total unilateral synostosis of the carpus fused with the second and third metacarpals. The diagnosis was made by chance. A scientific literature review was made but no other similar case was found(AU)
Un patient allant au Service des urgences en orthopédie dû à un traumatisme de la main droite est présenté. Une synostose totale du carpe par soudure unilatérale du deuxième et le troisième métacarpien est diagnostiqué. Le diagnostic est fortuit. Une revue bibliographique sur cette entité a été faite, mais on n'a pas trouvé un cas pareil(AU)
Subject(s)
Humans , Male , Wrist/abnormalities , Synostosis/diagnosis , Hand Injuries/diagnosis , Hand Injuries/drug therapyABSTRACT
Se presenta un paciente que acude al cuerpo de guardia de Ortopedia, por haber sufrió un trauma en la mano derecha cuando realizaba labores agrícolas. Se diagnóstico sinostosis total del carpo fusionada con el segundo y tercer metacarpianos, unilateral. El diagnóstico fue casual. Se realizó una revisión de la literatura científica sobre esta entidad y no se encontró caso similar
This paper presented a patient who went to the Emergency Orthopedic Service for a trauma in his right hand that occurred while he was working in farming. The diagnosis was total unilateral synostosis of the carpus fused with the second and third metacarpals. The diagnosis was made by chance. A scientific literature review was made but no other similar case was found
Un patient allant au Service des urgences en orthopédie dû à un traumatisme de la main droite est présenté. Une synostose totale du carpe par soudure unilatérale du deuxième et le troisième métacarpien est diagnostiqué. Le diagnostic est fortuit. Une revue bibliographique sur cette entité a été faite, mais on n'a pas trouvé un cas pareil
Subject(s)
Humans , Male , Wrist/abnormalities , Synostosis/diagnosis , Hand Injuries/diagnosis , Hand Injuries/drug therapyABSTRACT
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.
Subject(s)
Carpal Bones/abnormalities , Chromosomes, Human, Pair 3 , Spine/abnormalities , Synostosis/genetics , Tarsal Bones/abnormalities , Carpal Bones/diagnostic imaging , Chromosome Mapping , Female , Humans , Magnetic Resonance Imaging , Male , Pedigree , Radiography , Spine/diagnostic imaging , Syndrome , Synostosis/diagnosis , Synostosis/diagnostic imaging , Tarsal Bones/diagnostic imagingABSTRACT
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.
Subject(s)
Carpal Bones/abnormalities , Eye Abnormalities/diagnosis , Spine/abnormalities , Synostosis/diagnosis , Tarsal Bones/abnormalities , Abnormalities, Multiple/diagnosis , Adolescent , Adult , Carpal Bones/diagnostic imaging , Chromosome Banding , Dwarfism/diagnosis , Family Health , Female , Humans , Male , Pedigree , Radiography , Spine/diagnostic imaging , Tarsal Bones/diagnostic imagingABSTRACT
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.
Subject(s)
Abnormalities, Multiple/diagnosis , Synostosis/diagnosis , Abnormalities, Multiple/genetics , Carpal Bones/abnormalities , Carpal Bones/diagnostic imaging , Child , Child, Preschool , Female , Hand Deformities, Congenital/genetics , Humans , Pedigree , Radiography , Scoliosis/genetics , Spine/abnormalities , Spine/diagnostic imaging , Syndrome , Synostosis/genetics , Tarsal Bones/abnormalities , Tarsal Bones/diagnostic imagingABSTRACT
Se hace un reporte sobre un tipo de Sinostosis múltiples congénita que no parece haber sido reportado en la literatura
Subject(s)
Child, Preschool , Humans , Male , Congenital Abnormalities/diagnosis , Synostosis/diagnosisABSTRACT
We report a large Brazilian kindred with 28 cases of the autosomal dominant multiple synostosis syndrome. The main anomalies were symphalangism and carpal and tarsal synostoses. Other common findings included synostosis involving other bones, absence of phalanges and nails, short metacarpals, pes planovalgus with prominent lateral border, hypoplastic alae of nose, short upper lip, and dermatoglyphic abnormalities. This may be a variant of the WL syndrome.