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The Antley-Bixler syndrome is a rare multiple congenital anomaly with a high mortality rate. The characteristic manifestations include craniosynostosis, radiohumeral synostosis, midface hypoplasia, joint contractures and arachnodactyly. We report two new cases of this syndrome and address the diagnostic features, associated malformations, inheritance patterns, prenatal findings, and briefly review the literature.
We report on proximal symphalangism of the four last fingers, transmitted through five generations of an African family. Intrafamilial variations of the disorder are due to the heterogeneity of associated anomalies. This familial trait resembles multiple synostosis disease, however, it is not restricted to synostoses and appears to be more generalised. To our knowledge this is the first report of a familial trait associating proximal and distal symphalangism. The distribution of elementary anomalies in this family suggests a link in their pathogeny and raises the question of embryological equivalence for some of them. Symphalangism seems to be a symptom of a more generalised disorder, the comprehension of which requires a better coordination of clinical, embryological and genetic data.
This is a longitudinal study of 12 patients with craniofacial synostosis syndromes (Crouzon's, Apert's, Pfeiffer's) who underwent Le Fort III advancement under the age of 7 years (average age 5.1 years, range 4.0 to 6.7 years). The average follow-up was 5.0 years and included clinical, dental, and cephalometric examinations according to a prescribed protocol. The study demonstrated that the procedure could be safely performed in the younger child with an acceptable level of morbidity. There was a remarkable degree of postoperative stability of the maxillary segment. However, although vertical (inferior) growth or movement of the midfacial segment was demonstrated, there was minimal, if any, anterior or horizontal growth. Any occlusal disharmony developing during the period of follow-up could be attributed to anticipated mandibular development and could be corrected by orthognathic surgery. The roles of surgical overcorrection and anterior-pull headgear therapy after release of intermaxillary fixation are also discussed. The Le Fort III osteotomy is justifiably indicated during early childhood for psychological and physiologic reasons.
A male premature baby, whose mother was an alcoholic, was diagnosed as a case of fetal alcohol syndrome according to the following: (1) early-onset intrauterine growth retardation and persistent postnatal growth failure; (2) psychomotor retardation; (3) craniofacial dysmorphism; (4) tetralogy of Fallot; and (5) radioulnar synostosis. The literatures on the clinical manifestation, pathogenesis, and outcome of fetal alcohol syndrome are reviewed.
Twenty young hybrid dogs were classified into 5 groups: the control, the group examined immediately after 2 weeks compression (3.52 mm), and those examined at 2, 4 and 8 weeks retention. In those animals undergoing compression 4 times, Dentaurum expansion screws (#602-813) were placed between the left and right fourth dento premolar. when rapid compression was used interruptedly, local synostosis was only seen in the palatine suture, but following retention for 8 weeks, this phenomenon almost completely disappeared. The internal mechanical force of the adjoining sutures had disappeared within 4 weeks of retention. In conclusion, this clinical application causes no permanent damage.
During the past five years at the ENT Clinic in Olomouc 15 incudomallear synostoses of inflammatory aetiology were observed; 10 times tympanotomy was found, performed in patients without an inflammatory history, fixation of the malleus, or fixation of the malleus and incus or fixation of the stapes and malleus. The authors demonstrate three typical cases, incl. preoperative and postoperative audiograms. As during operation the ossicles are mobilized and left in situ et in function or removed by milling and destroyed and replaced by a reconstruction, the authors demonstrate a primarily fixed malleus found accidentally in the skull from medieval excavations, and histological preparations of primary incudomallear synostosis from a macerated skull in the anatomical museum.
The study of four cloverleaf skulls (two fetuses, one infant, and a young adult) concerns two Pfeiffer syndromes, a thanatophoric dysplasia and an isolated case. Clinical and radiologic examinations showed malformations at the level of the calvarium, the base, orbital cavities, and, sometimes, limb abnormalities. Correlations between these findings and the microradiographic analysis of nondemineralized sections elucidate this trilobular appearance of the skull. Premature temporoparietal suture closure terminates at a constricted surface of the lateral sides of the skull during the fetal life. Extension of the synostosis to coronal and frontal sutures and thickening of the occipital bone squama block lengthening of the skull. The consecutive reduction in skull volume is compensated by the maintenance of the permeability during the neonatal period of the sagittal and lambdoid sutures. Microradiographic examination shows that this anomaly may be of vascular origin and associated with abnormal osteoclastic resorption.
Unsatisfactory results of the conservative treatment of club foot deformity in 220 patients (346 feet) were analyzed. Data of roentgenograms in 86 patients enabled the authors to make a conclusion that an early cause of recurrent club foot is the delayed formation of nuclei of ossification of the navicular and I sphenoid bones, the later cause of the recurrent deformity is early synostosis of the epiphysis of the metatarsal bone. The importance of dispensary observation ad prophylactic measures after the treatment of congenital club foot is emphasized.
Eight cases of the fetal alcohol syndrome are presented with emphasis on their frequent orthopedic anomalies, i.e. hypoplastic toenails (100%), shortened fingers, usually the fifth (75%), radioulnar synostosis, camptodactyly of fingers, clinodactyly of toes, and flexion contractures of the elbow (all 50%). These are in addition to 7 other orthopedic anomalies observed less frequently and some 18 general characteristics had an extensive endocrine, biochemical and genetic work-up and no abnormalities were found to explain the snydrome other than the teratogenicity of the maternal alcohol abuse. Since the orthopedist may be the first physician to see these patients, diagnosis of these musculoskeletal anomalies should include a social history and investigation for fetal alcohol syndrome.
A report on 5 cases with successful treatment of a posttraumatic synostosis of radius and ulna by resection and interposition of a silastic-membrane is presented. This membrane has to ensheath one of the forearm bones for at least half of its circumference and it is fixed partially with Dexon sutures. During operation it is necessary to confirm this fixation of the membrane, which must be unchanged after rotation of the forearm. The range of movement reached 4 years after operation was about 120 degrees (100-130 degrees) on an average. A better result can only be expected by an osteotomy of the radius and correction of its position.
In the neurocranium of the domestic fowl the centres of ossification present at hatching and appearing susbequently have been investigated and illustrated. The controversy over centres around the orbit is reviewed and it is concluded that paired laterally placed pleurosphenoids are present by the time of hatching, while paired orbitosphenoids situated near the midline and dorsal to the optic foramen do not appear until between 70 and 91 days after hatching. No additional "presphenoid" centres were detected. The neurocranial articulations were studied: 27, many of them paired, were identified. The sequence and timing of synostosis were determined.
Eighty-four fresh diaphyseal fractures of the forearm in 55 patients were treated by double plates, with bone union occurring in 97.6 per cent. Seventy fresh diaphyseal fractures of the forearm in 48 patients were treated by single compression plates (tension band plates) with bone union occurring in 100 per cent. In both series, other than infection (two in the double plating series and none in the compression plating series), the major complication was synostosis. This matter is being further investigated at this time by one of the authors (JWM) in an attempt to abort this most distressing complication. The other major complication is related to the stress riser effect of the implant, particularly after hardware removal. There still remains some difference of opinion as to whether metal has to be removed, and in general, unless there is a clear-cut indication for its removal, we do not do so. We now believe that double plating and single compression plating (tension band plating) will insure a high rate of union, a generally excellent functional result, and a low complication rate. However, ASIF (AO) plating provides a somewhat shorter operative time and, at least theoretically, less stress protection of bone and possibly less devitalization of tissue because of the need for less soft tissue stripping for exposure. Therefore, in our clinic for the most part we now use single tension band plating for displaced diaphyseal fractures of the forearm in the adult.
The authors observed 10 blocks of from 2 to 8 vertebrae in 7 patients whose spines were affected by Paget's disease. The morphological characteristics of these blockages were for the most part similar to those of acquired synostoses, the corresponding articular apophyses appearing to be fused in the majority of cases. Even without a radiograph taken before the formation of the blocks, the fact that there had been progression of the synostosis between certain vertebrae indicates the probability of an acquired origin. The prevalence of these vertebral blocks in a group of 76 patients suffering from Paget's disease of the spine (12 percent, or 9 patients with 13 blocks) was significantly higher than that found in a population of 200 persons not suffering from Paget's disease, (3 percent, or 6 patients with 6 blocks) and among the 13 blocks discovered in the patients with Paget's disease only 3 were formed of vertebrae unaffected by deforming osteitis. These facts suggest that the formation of a vertebral block may be favoured by Paget's disease localized in the vertebral column. This is a little recognized idea even though it was formulated in Schmorl's work at the beginning of this century.
A female newborn presenting a malformative syndrome which groups trapezoidocephaly, midfacial hypoplasia, radiohumeral synostosis, multiple joint contractures and femoral bowing is described as being affected of an Antley-Bixler syndrome. We compare this case with the seventeen others cases reported.
Report on two cases. The congenital form we explain by partial persistence of an early stage of embryonal development. The cartilage common to tibia and fibula has separated only incompletely during further growth. The postoperative form probably arises from a bridge-cellus which developed from relative instability of the ostetomy-area during bony union. This bridge-callus became during further growth a wide tibiofibular synostosis.
A retrospective review of 20 children with forearm fractures treated with intramedullary fixation is presented. Indications for surgery included fracture malreduction, open fracture, polytrauma, unstable fracture pattern, and compartment syndrome. Both radius and ulna were fractured in patients. Intramedullary fixation of both bones was performed in eight cases, ulna alone in nine, and isolated radius in three. A limited open approach to one or both bones was necessary for insertion of the intramedullary rod in 15 of 20 cases, including the eight open fractures. Eighteen complications occurred in 10 of 20 patients, including hardware migration, infection, loss of reduction, reoperation, nerve injury, significant decreased range of motion, synostosis, muscle entrapment, and delayed union. Despite the complications, 17 patients had excellent and two had good outcomes. Although excellent clinical results can be expected with intramedullary fixation, complications related to the surgical technique can be expected.
Fibular function has long been a point of controversy in the literature. Until recently the fibula's role during gait has been thought of as entirely static. A review of the literature reveals an important dynamic function for the fibula in maintaining ankle mortise stability during weight bearing. Roentgenographic and anatomical studies confirm the hypothesis of progressive distal fibular descent. A taut interosseous membrane and deepened mortise result when be flexors of the foot contract during stance phase. Congenital deformities of the ankle may stem from aberration in the dynamic role of the fibula. Stress fractures and problems resulting from impaired distal migration and synostosis formation are interpreted as disorders of the dynamic role of the fibula.
In addition to the typical form of Scheuermann's disease, atypical and localized manifestations also occur. Examples are paradiscal defects and the development of vertebral synostosis. These unusual manifestations are illustrated by reference to a number of patients.