The acneform eruption of Apert's syndrome is not acne vulgaris.
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Acne Vulgaris↗
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The use of methyl methacrylate in a two-stage correction of Crouzon's/Apert's deformity.
We have employed a two-stage operative approach to the correction of Crouzon's/Apert's deformity. Extensive use of methyl methacrylate in cranioplasty and frontal bone advancement is employed to obtain finely detailed contours with excellent stability. By adhering to principles of separation of oral contamination and the methyl methacrylate, as well as the provision of adequate soft tissue coverage of the methyl methacrylate, the problems of infection and soft tissue breakdown can be minimized.
Acrocephalosyndactylia↗
Constriction band syndrome.
Thirty cases of constriction band syndrome diagnosed and treated with surgery at Ramathibodi Hospital, Bangkok, during 1973 to 1986 are reported. The incidence of this congenital anomaly could not be verified in this series because the number of cases was limited and the cause could not be concluded. The less frequent site of constriction band was the thumb, but acrocephalosyndactyly was the most common associated anomaly. All 30 cases were treated with surgery. One-stage Z-plasty encircling the limb was performed for those with pure constriction band. Cases of acrocephalosyndactyly were treated with staged separation of the digits as well as local flap and skin grafts. Good results were achieved in 16 of 20 patients with constriction band alone and in 4 of 10 acrosyndactyly cases. No compromised circulation of the distal limb or total flap loss was encountered in this study. This type of surgery certainly gives encouraging results.
Abnormalities, Multiple↗
Internal brain herniation in a patient with Apert's syndrome.
Patients with Apert's syndrome typically exhibit craniosynostosis, exorbitism, midface hypoplasia, and symmetric syndactyly. There have also been occasional descriptions of the variable dysmorphology of the inner surface of the calvarium. We present a patient with Apert's syndrome who had an intracranial herniation of a portion of the frontal lobe through a ridge of ossified dura. The ridge and the gliotic cortical tissue were removed when the patient underwent repair of the hypertelorism at age six. Bone grafts for this repair were fashioned in part from the resected ridge. We believe this finding may be the result of a small dural tear that occurred during prior surgery.
Acrocephalosyndactylia↗
Familial Saethre-Chotzen syndrome with or without polydactyly of the toe.
A family with Saethre-Chotzen syndrome with or without polydactyly of the great toes is presented. Saethre-Chotzen syndrome with polydactyly of the great toes has been reported as Robinow-Sorauf syndrome. Both syndromes were observed in this family. This suggests that Saethre-Chotzen syndrome and Robinow-Sorauf syndrome fall within the same clinical spectrum, and the cause is a pleiotropic effect, which is variously expressed.
Acrocephalosyndactylia↗
A four-pulp flap technique for creating nail folds in the separation of a mid-digital mass in a patient with Apert's disease.
Apert's disease is distinguished from other acrocephalosyndactylys by bilateral and symmetrical deformities, including symphalangism of the hands, which is commonly present in the index, long, and ring fingers. In the correction of the Apert hand, simple separation and skin grafting may be used to create a five-digit hand. However, this technique may result in narrow, atrophic fingertips, and pulp pads. In this paper, a simple technique to create nail folds and pulps for each finger with four transposition flaps from the common pulp is described. During the past 3 years, four Apert hand deformities in 2 patients were treated with this procedure. At a mean follow-up of 32 months, good results were obtained.
Acrocephalosyndactylia↗
Airway obstruction in severe syndromic craniosynostosis.
Airway obstruction is frequent in patients with severe syndromic craniosynostosis, and must be treated for successful, complete care. The purpose of this study was to evaluate the incidence and the management of airway obstruction in patients with severe craniosynostosis. All patients with complex syndromic craniosynostosis at Chang Gung Craniofacial Center were evaluated retrospectively. Criteria for inclusion of patients were the presence of adequate follow-up and documentation. A total of 40 patients were included, of whom 13 had Apert's syndrome and 27 had Crouzon's disease. Clinical symptoms and signs related to airway obstruction and its treatment were evaluated carefully, and were verified further by telephone inquiry. The status of the airway was categorized into one of three groups: no obstruction; mild obstruction, for which positioning and medical treatment were needed; and severe obstruction, for which surgical intervention was needed. The results showed that 24 patients (60%) did not have airway obstruction, 11 patients (27.5%) had mild obstruction, and 5 patients (12.5%) had severe obstruction. There was no significant difference in the distribution of airway status between patients with Apert's syndrome and Crouzon's disease. Causes for the 5 patients with severe obstruction were midface hypoplasia, lower airway obstruction, tonsillar and adenoid hypertrophy, and choanal atresia. Tracheostomy was performed to control airway in 3 patients, and 1 patient died. Midface anterior distraction helped to decannulate 1 patient. In conclusion, airway obstruction was observed in 40% of patients with severe craniosynostotic syndromes. Most of them could be managed successfully with conservative or medical treatment, and surgical intervention should be considered on the basis of each patient's individual condition.
Acrocephalosyndactylia↗
Monobloc craniomaxillofacial distraction osteogenesis in a newborn with severe craniofacial synostosis: a preliminary report.
Severe craniofacial synostosis can be a devastating problem for a newborn infant. Reasons for early surgical intervention include cranial stenosis, hydrocephalus, inadequate globe and corneal protection, compromised airway patency, and feeding problems. In this preliminary report, we describe the management of severe craniofacial synostosis in a newborn infant by means of cranial and midfacial distraction osteogenesis.
Acrocephalosyndactylia↗
The infant skull in Pfeiffer's syndrome.
A review of Pfeiffer's syndrome patients presenting in infancy identifies characteristic patterns of onset and progression of premature sutural fusion. Classic Pfeiffer's syndrome manifests symmetrical bicoronal synostosis; all other sutures are normal. The remaining patients, with a more extreme phenotypic expression, have superimposed on bicoronal synostosis progressive involvement of other cranial sutures, frequent hydrocephalus and craniolacunae, suggesting craniostenosis and intracranial hypertension. Although similar in clinical features and outcome, these patients have been subgrouped according to the presence or absence of a cloverleaf skull anomaly.
Acrocephalosyndactylia↗
Cranial suture disease in the Apert's syndrome infant.
The histologic findings from sutural specimens remove during early cranial surgery in Apert's syndrome infants have been reviewed. Coronal sutures are uniformly fused histologically in their inferolateral extent, showing a progression to lesser changes at the superior margin. These findings correspond with radiographic changes. The lambdoid sutures occasionally show histologic evidence of fusion, with the same pattern of inferior to superior progression, but a lack of objective radiographic changes.
Acrocephalosyndactylia↗
Cervical spine in Pfeiffer's syndrome.
Studies of cervical spine anomalies in patients with Crouzon's and Apert's syndromes have shown an increased incidence of fusions in comparison with that in the normal population. Currently, only small series of patients with Pfeiffer's syndrome who exhibit abnormalities have been published. The objective was to assess the incidence and pattern of radiological cervical spine abnormalities in patients with Pfeiffer's syndrome. All cervical spine radiographs of 22 patients with a confirmed diagnosis of Pfeiffer's syndrome treated at Great Ormond Street Hospital during the last 10 years were studied. All of the radiographs were reviewed by the craniofacial team along with a pediatric radiologist with experience in the assessment of skeletal dysplasias. Radiological abnormalities included hypoplasia of the neural arches, hemivertebrae, and a "butterfly" vertebra as well as vertebral fusion. Evidence of vertebral fusion was present in 16 (73%) of cases. Fusion of both the vertebral bodies and the posterior elements were noted. C2-C3 was the level most commonly involved, although fusion was noted at all levels within the cervical spine. Block fusions involving multiple vertebrae were noted. Analysis of sequential radiographs in 11 patients revealed evidence of progression in eight patients. These results reveal an incidence of anomalies that is higher than previously reported. The older age of the patients in our study demonstrates the progressive nature of the cervical fusions in Pfeiffer's syndrome.
Acrocephalosyndactylia↗
Airway changes after Le Fort III osteotomy in craniosynostosis syndromes.
The purpose of this study was to investigate changes in the nasopharyngeal airway and surrounding structures after Le Fort III advancement in Apert's and Crouzon's syndromes. Sixteen status post Le Fort III osteotomy Apert's and Crouzon's patients with pre- and postoperative lateral cephalograms were evaluated. The cephalograms were traced, and linear and angular measurements were obtained. Pre- and postoperative data were compared using a Student's paired t-test. The correlation between changes in the nasopharyngeal airway and its surrounding skeletal structures was evaluated. Finally, the study subjects were divided into two groups--Apert's and Crouzon's--and preoperative measurements from each group were compared with normal data by a Student's paired t-test. Significant improvement in the nasopharyngeal airway followed Le Fort III advancement, with changes in both hard and soft tissues. There was no change in the pharyngeal airway, even though a decrease might be predicted because of the clockwise rotation of the mandible. The morphology of the impairment in the nasopharyngeal airway differed between Apert's and Crouzon's syndrome individuals. Our results suggest that, for the purpose of airway improvement, the midface should be mainly advanced in the Crouzon's syndrome individual, whereas the downward component of the movement should be predominant in the Apert's syndrome individual.
Acrocephalosyndactylia↗
Cloverleaf skull anomaly with extreme orbitostenosis.
A neonate presented with cloverleaf skull anomaly and severe proptosis requiring urgent cranioplasty to attain eyelid closure. Despite this, she experienced exposure keratitis and corneal perforations. A ventriculoperitoneal shunt was performed subsequently to relieve hydrocephalus, but respiratory problems eventually led to her death at 6 months. This case highlights the complexity of the problems encountered in the cloverleaf skull anomaly, and a brief review discussing its management is included. Despite improvements in treatment of this condition, the overall prognosis remains poor.
Acrocephalosyndactylia↗
Acrocephalosyndactyly syndromes: a review.
Over the last quarter century, a revision has taken place in the classification of the acrocephalosyndactyly syndromes. This reflects the advances in molecular biology that have led to improved genetic mapping of these syndromes. In this review we provide an overview of these major acrocephalosyndactyly syndromes, including the current classification system. The craniofacial, neurological, cardiac, pulmonary, visceral, and extremity anomalies are discussed with special emphasis on hand anomalies. Hand reconstruction techniques, including specific surgical procedures, the timing of the surgical reconstruction, and postoperative therapy are discussed. The need for coordinated care of the multidisciplinary disorders of these patients cannot be overemphasized, especially in the perioperative period.
Acrocephalosyndactylia↗
Frontofacial osteotomies, advancement, and remodeling by distraction: an extended application of the technique.
The purpose of this clinical report is to present the distraction technique for advancement of the frontofacial skeleton as a unit. Our 14-year-old patient was diagnosed with Carpenter's syndrome and kleblattschädel deformity at birth. At other centers the patient underwent corrective surgeries, including repeated fronto-orbital advancement in an attempt to correct the residual deformity. This has resulted in bony malunion and recurrent deformity, and it has left the patient with no available donor sites for harvesting of bone graft. The patient had class III malocclusion, severe midfacial and frontal deficiency, and relative turricephaly. We performed frontofacial osteotomies and placement of the distraction devices. Distraction of 20 mm was accomplished, correcting the exophthalmos and midface retrusion and producing class I dental occlusion. We conclude that distraction is an optional surgical method that can be applied in selected cases for advancement of the entire frontofacial skeleton.
Acrocephalosyndactylia↗
The feet in Pfeiffer's syndrome.
Broad toes are the classic clinical finding occurring in the feet in Pfeiffer's syndrome patients, but few cases undergo formal radiological assessment. However, the feet in other craniosynostosis syndromes resulting from mutations of the fibroblast growth factor receptor 2 gene have anomalies at many other sites within the feet, which raised the possibility that there may also be a wider range of anomalies other than broad big toes in the feet of those with Pfeiffer's syndrome. The object of this study was to assess prospectively the incidence and pattern of clinical and radiographic anomalies of the feet of patients with a confirmed diagnosis of Pfeiffer's syndrome. Twenty-two Pfeiffer's syndrome patients were examined both clinically and radiologically for anomalies of the feet. Clinical examination revealed broad big toes in 12 patients and syndactyly in 2. Radiographs of the feet were evaluated by a radiologist with an interest in skeletal dysplasia as well as by members of the Craniofacial team. A wider range of radiological than clinical anomalies involving the phalanges, metatarsals, and tarsals was seen. The severity of the anomalies observed ranged from normal to those resembling the feet of Apert's syndrome patients. Only 4 patients had radiologically normal feet. These radiographic findings suggest that there is a range of foot anomalies more extensive than the broad big toes, which are classically associated with Pfeiffer's syndrome.
Acrocephalosyndactylia↗
Apert's syndrome correlates with low fibroblast growth factor receptor activity in stenosed cranial sutures.
Recent genetic studies have shown that Apert's syndrome results from mutations of the fibroblast growth factor (FGF) receptor 2 gene. We were interested in investigating the expression of FGF receptor 2 at the tissue level in children with Apert's syndrome. We studied FGF receptor activity in cranial sutures of children with Apert's syndrome and nonsyndromic, isolated craniosynostosis. Fourteen children between the ages of 6 months and 12 months were studied. Five of these children had Apert's syndrome with coronal suture stenosis. Nine children had an isolated, nonsyndromic coronal stenosis. Stenosed and nonstenosed cranial sutures were removed at the time of cranioplasty, fixed, decalcified, and paraffinized. Immunohistochemistry was performed with labeled, specific anti-FGR receptor 2 antibodies. We found lower levels of FGF receptor 2 staining in both stenosed and unstenosed sutures of children with Apert's syndrome compared with those from children with a nonsyndromic suture stenosis. Furthermore, fused sutures from children with Apert's syndrome demonstrated lower levels of FGF receptor 2 staining than unfused sutures from the same sample. The findings suggest that Apert's syndrome correlates with low FGF receptor 2 activity in cranial sutures. These results are consistent with and similar to our findings in Crouzon's syndrome, and support genetic studies showing localized mutational changes occurring at the FGF receptor 2 gene for both Apert's and Crouzon's syndromes. Furthermore, the findings suggest the possibility that variable expression of FGF receptor 2 occurs at the tissue level in patients with Apert's syndrome.
Acrocephalosyndactylia↗
Midfacial advancement by bone distraction for treatment of craniofacial deformities.
Craniofaciostenosis is often associated with midfacial hypoplasia and has been treated traditionally using Le Fort advancement osteotomies and bone grafts. The surgical procedure requires a prolonged operating time, several osteotomies with a significant blood loss, and wide surgical exposure. According to the principles of bone lengthening, we performed midfacial advancement by bone distraction in 4 patients with midfacial hypoplasia to reduce the operative time and complication rate. In 2 patients with Crouzon's syndrome we performed a Le Fort III osteotomy and placed the distraction device behind the malar eminence and screwed it on the temporal bone bilaterally. In the other 2 children, with Apert's syndrome, we performed frontal advancement and remodeling before placing the device during the same surgery behind the malar bone without any midfacial osteotomy. It appears to us that patients with more severe deformities will need surgical procedures to offer more satisfactory results. In these patients, distraction is an initial therapy to reduce the severity of the deformity, making it possible to effect a better treatment afterward.
Acrocephalosyndactylia↗