Safety and Efficacy of Derotational Osteotomy for Congenital Radioulnar Synostosis.

BACKGROUND: Congenital radioulnar synostosis (CRUS) refers to an abnormal connection between the radius and ulna due to embryological failure of separation. Derotational osteotomy has been advocated for children with functional limitations, although historically this procedure has been associated with a 36% complication rate including compartment syndrome and loss of correction. METHODS: A retrospective evaluation of consecutive patients who underwent derotational osteotomy for CRUS at a single institution was performed. Children with functional limitations secondary to excessive pronation were indicated for surgery with a goal of correction to 10 to 20 degrees of pronation. All patients were treated with a standardized surgical technique including careful subperiosteal elevation, rotational osteotomy at the level of the synostosis, control of the osteotomy fragments, appropriate pinning techniques, and prophylactic forearm fasciotomies. Electronic medical records, preoperative radiographs, and postoperative radiographs were reviewed. RESULTS: Derotational osteotomy was performed in 31 forearms in 26 children (13 bilateral, 13 unilateral) with a mean age of 6.8 years (range, 3.0 to 18.8 y). The mean clinical follow-up was 46 months (range, 6 to 148 mo). The mean preoperative pronation deformity was 85 degrees (range, 60 to 100 degrees). The mean correction achieved was 77 degrees (range, 40 to 95 degrees), resulting in a mean final position of 8 degrees of pronation (range, 0 to 30 degrees). All patients successfully achieved union by 8 weeks postoperatively. There were no cases of compartment syndrome, vascular compromise, or loss of fixation. The overall complication rate was 12% (2 transient anterior interosseous nerve palsies, 1 transient radial nerve palsy, 1 symptomatic muscle herniation). Both transient anterior interosseous nerve palsies occurred in patients with rotational corrections exceeding 80 degrees. CONCLUSIONS: Derotational osteotomy can be safely and effectively performed in children with CRUS. Meticulous surgical technique, including control of the osteotomy, judicious pin fixation, and prophylactic fasiotomies, may diminish the risk of neurovascular compromise and loss of correction. Transient anterior interosseous nerve palsies occurred, and may be related to large rotational corrections.

Methimazole embryopathy: a contribution to defining the phenotype.

It has been suggested that children prenatally exposed to methimazole may present some features in common but the phenotype remains to be defined. The reported facial features include upward slanted palpebral fissures, arched flared eyebrows and small nose with a broad bridge. Choanal atresia and other anomalies like esophageal atresia and aplasia cutis were also described with this embryopathy. Additionally, developmental delay was reported in some patients along with one of these major malformation. We present a patient with the mentioned facial features, developmental delay and radio-ulnar synostosis whose mother has been exposed to methimazole during pregnancy and any other ethiological cause could be recognize.

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.

The Antley-Bixler syndrome.

Three unrelated children (two girls and one boy) with the Antley-Bixler syndrome have been evaluated, bringing to five the number of patients reported with this disorder. All have had brachycephaly, midface hypoplasia, dysplastic ears, radiohumeral synostosis, and joint contractures. Craniosynostosis has been documented radiographically in four of the five patients. All five have had a severely shortened cranial base. Femoral bowing with neonatal fractures has been a variable feature. All have represented sporadic occurrences in otherwise normal families.