1/4. VATER association: is it recognised by rheumatologists?The authors describe an adult patient with history of chronic low back pain and recurrent prostatitis, marked limitation of lumbar spine motion and a radiograph demonstrating fused lumbar vertebrae, which suggest a diagnosis of spondylarthropathy. However, the absence of radiographic evidence of sacroilitis, the nature of the vertebral defects and a history of imperforate anus pointed towards the diagnosis of VATER association, rather than a spondylarthropathy. Although most patients with VATER association are diagnosed during infancy, the musculoskeletal anomalies can be overlooked while the potentially life-threatening problems are under treatment. These anomalies may become evident later in life. Therefore, in a rheumatologic practice, when evaluating patients with back pain and vertebral anomalies, one should become familiar with the varied manifestations of VATER association.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
2/4. Enterolithiasis with imperforate anus. Report of two cases with sonographic demonstration and occurrence in a female.Enterolithiasis has been previously described as a plain film finding of rectovesical or rectourethral fistula in patients with anorectal malformation. Two cases of enterolithiasis with anorectal malformation are described in which the intraluminal nature of the calcifications was identified using ultrasound. The use of ultrasound for this purpose has not been previously reported to our knowledge. This simple, noninvasive technique permits antenatal differentiation between enterolithiasis and meconium peritonitis in some patients and can suggest the prenatal diagnosis of rectourinary communication when enterolithiasis is present. In addition, one of our cases occurred in a female. The entity of enterolithiasis with imperforate anus in a female has not been previously reported.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
3/4. Townes syndrome. A distinct multiple malformation syndrome resembling VACTERL association.An 8-year-old male is presented with clinical findings of Townes syndrome in an otherwise unaffected family. Additional abnormalities possibly representing low frequency associations of this autosomal dominant multiple malformation syndrome included a cardiac defect and hypospadias. Similarities exist between Townes syndrome and VACTERL association, which is generally regarded to be sporadic in nature. Recognition of Townes syndrome as a distinct entity is critical for implementing appropriate management in early childhood, including amplification of hearing impairments. Variable expressivity may occur in this disorder. Careful evaluation must be made, therefore, of the parents of an affected infant with an apparent sporadic case, in order to provide the couple with an accurate recurrence risk at genetic counseling.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
4/4. Cat-eye syndrome with unusual marker chromosome probably not chromosome 22.An unusual supernumerary chromosome with a single satellite on the long arm was found in a child with manifestations of the cat-eye syndrome including apparently low-set and malformed ears, preauricular tags, micrognathia, and imperforate anus. Although G-banding suggested that this extra material was chromosome 22, this was not confirmed by several other banding techniques. After examination of the parents' chromosomes, the nature and origin of this extra chromosome remains obscure. We conclude that patients previously diagnosed as having "partial trisomy 22" with incomplete cat-eye syndrome may have a different chromosome constitution when studied by various banding techniques.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |