Craniofrontonasal dysostosis and the Poland anomaly.
Explore the source record for details and available documents.
Bone Diseases, Developmental↗
Biomedical subjects
D J David
Publications and source records attributed to D J David.
Jackson-Weiss syndrome: clinical and radiological findings in a large kindred and exclusion of the gene from 7p21 and 5qter.
We describe the clinical and radiological manifestations of the Jackson-Weiss syndrome (JWS) in a large South Australian kindred. Radiological abnormalities not previously described in the hands include coned epiphyses, distal and middle phalangeal hypoplasia, and carpal bone malsegmentation. New radiological findings in the feet include coned epiphyses, hallux valgus, phalangeal, tarso-navicular and calcaneonavicular fusions, and uniform absence of metatarsal fusions. Absence of linkage to eight markers along the short arm of chromosome 7 excluded allelism between JWS and Saethre-Chotzen syndrome at 7p21. No linkage was detected to D5S211, excluding allelism to another recently described cephalosyndactyly syndrome mapping to 5qter.
Alleles↗
The relationship between fracture severity and complication rate in miniplate osteosynthesis of mandibular fractures.
There are many factors influencing the outcome of mandibular fracture management; however, the relationship between fracture severity and complication rate has only been recognised intuitively due to the absence of an accepted system of classification of the severity of these fractures. In 1989 Cooter and David described the alpha numeric system of computer based coding for craniofacial fractures. Using this system, a prospective sample of 324 patients with mandibular fractures presenting to the Royal Adelaide Hospital was coded for fracture severity and their progress followed with respect to complication rate. A strong correlation between complication rate and fracture severity was established.
Bacterial Infections↗
Mandibular lengthening by distraction for airway obstruction in Treacher-Collins syndrome.
Mandibular lengthening by distraction was performed in a 6-year-old tracheostomy-dependent Treacher-Collins syndrome patient. Detailed preoperative imaging revealed an occluded retrotongue base pharyngeal airway, which, following mandibular distraction, became patent and permitted tracheostomy removal. Mandibular distraction as a technique must be targeted toward clinical problems--management of upper-airway obstruction may be one such scenario.
Airway Obstruction↗
Noncraniofacial manifestations of Crouzon's disease.
Although most interest centers on the craniofacial region in Crouzon's disease, noncraniofacial manifestations are important because they may complicate both diagnosis and management. A population of 59 patients with Crouzon's disease was reviewed to determine the frequency of these deformities. Stylohyoid ligament calcification (50%) and cervical spine (40%) and elbow (18%) abnormalities were the most common. Minor hand deformities (10%), other musculoskeletal deformities (7%), and visceral anomalies (7%) were also seen. Acanthosis nigricans was not present in this population. Recommendations are made for the assessment and management of Crouzon's disease with reference to these areas.
Acanthosis Nigricans↗
Patterns of mandibular fractures in Adelaide, South Australia.
Facial fractures are exceedingly common, and fractures of the mandible are the most common facial fracture. Over the past two decades a changing trend in the aetiology of these fractures has been apparent, with a decline in the percentage resulting from motor vehicle trauma, and an increase in the percentage resulting from assaults. A 3 year prospective study of 324 patients presenting to the Royal Adelaide Hospital with mandibular fractures was conducted and the patient groups, influence of alcohol, aetiology and type of fracture were examined and compared with other large series from around the world.
Accidents, Traffic↗
Phenotypic variation in acrocephalosyndactyly syndromes: unusual findings in patient with features of Apert and Saethre-Chotzen syndromes.
The acrocephalosyndactyly syndromes have presented diagnostic challenges because of overlap in their clinical manifestations. We present a patient with features most suggestive of Apert syndrome, but with a pattern of syndactyly not previously described. In contrast to the complex syndactyly reported as a universal feature of this syndrome, this patient shows close to total simple syndactyly of the index through ring fingers of each hand. Differential diagnoses are discussed. Because the features are reminiscent of Apert syndrome, we suggest that a new classification of hand morphology should be added to include the pattern described here.
Acrocephalosyndactylia↗
Snuff as a respiratory drive stimulant: a case study.
Explore the source record for details and available documents.
Aged↗
Depo-Provera: an injectable contraceptive.
Medroxyprogesterone acetate (Depo-Provera) is now approved for use as an injectable contraceptive. It is highly effective and has the advantage of only needing to be administered once every 12 weeks. The most common side effects are menstrual irregularities, amenorrhea in particular. Several illustrative cases are presented that demonstrate appropriate patient selection for this agent.
Adolescent↗
Apert's syndrome.
This paper discusses 33 cases of Apert's syndrome which were treated in the Australian Craniofacial unit at the adelaide Children's Hospital. The main features were discussed. We found that mild ventricular dilatation is common in Apert's syndrome but without associated raised intracranial pressure. Severe ventricular dilatation was seen in only one case. No shunt procedures were performed. We also studied the changes in the ventricular size after transcranial corrective procedures. There was no significant change in the ventricular size, the increase in the skull volume was compensated by expansion of the brain tissue and to some extent by increase in the subarachnoid space. Two cases with unusual features are also described.
Acrocephalosyndactylia↗
Progressive hemifacial atrophy (Romberg's disease): skeletal involvement and treatment.
Progressive hemifacial atrophy (Romberg's disease) manifests variable involvement of the skin, soft tissue and underlying cranio-facial skeleton. Significant bony deformation has been identified in those patients with early onset disease, the result of factors both intrinsic to the disease process and secondary to the abnormal environment in which the skeleton develops (functional matrix). Treatment demands combined osteotomy and augmentation of the skeleton in concert with conventional approaches to soft tissue correction.
Adolescent↗
Associated injuries in facial fractures: review of 839 patients.
Patients with facial trauma may have associated injuries requiring immediate or specialised attention. This paper reports the incidence and nature of significant associated neurosurgical, ocular, spinal, torso and extremity injuries in facial fracture patients treated by the Department of Plastic and Reconstructive Surgery from June 1989 to June 1992. Of 839 patients treated during the period, 95 patients (11.3%) sustained significant concomitant injuries outside the facial skeleton. There were 45 (5.4%) patients with associated neurosurgical injuries, 33 (3.9%) with ocular injuries, 8 (0.9%) with spinal injuries, 16 (1.9%) with injuries of the torso, and 62 (7.4%) with injuries of the extremities. The spectrum of the injuries is presented. Most neurosurgical injuries are a result of focal impact and the intervention required is related mainly to local fracture management and the repair of dural tears. The risk of significant ocular injury is highest when the fracture involves the orbit. Injuries of the spine, torso (chest, abdomen, pelvis), and limbs were seen mainly in road trauma patients.
Abdominal Injuries↗
Basal encephalocoele: imaging and exposing the hernia.
Basal encephalocoeles are rarely reported anomalies. Eight cases seen by one unit manifested external facial features and internal cerebral anomalies characteristic of the individual encephalocoele subgroups. CT and MR imaging delineates the anatomy of the skeletal defect and the associated cerebral abnormalities. Such imaging of cases of median cleft face syndrome may identify previously unsuspected basal encephalocoeles. Transcranial correction with increased exposure, if needed, by the technique of facial bipartition has been performed in five cases.
Child↗
Sports-related facial fractures: a review of 137 patients.
One hundred and thirty-seven patients with sports-related facial fractures were reviewed. These made up 16.3% of 839 patients with facial fractures seen at the Department of Plastic and Reconstructive Surgery, Royal Adelaide Hospital, between June 1989 and June 1992. Males made up 93.4% of patients and 89.1% were aged below 35 years. There was an intent to injure in 11%. Australian Rules football was the causative sport in 52.6%, all the injuries being the result of human contact. Orbitozygomatic fractures were the most frequently observed overall (62%) as well as in Australian Football (58.3%). Cricket contributed to 14.6%, the ball being the agent of injury in all but one of the patients. Horse-riding injuries were the most severe. 89.1% of the patients required surgery and hospital stays ranged from 0 to 18 days with an average stay of 4.7 days. Sports activities, although a significant source of enjoyment, are a significant cause of facial fractures with their attendant morbidity.
Adolescent↗
Cephaloceles: classification, pathology, and management--a review.
The spectrum of diseases that give rise to cephaloceles is reviewed with particular reference to conditions encountered by craniofacial teams. The broad term cephalocele contains the more focused term meningoencephalocele, which is most commonly used by craniofacial surgeons. The interesting pathology of frontoethmoidal meningoencephaloceles is described with reference to the experience of the Australian Craniofacial Unit from 1975 to 1993. Further observations supporting the uniqueness of this entity are made. Although the meningoencephalocele associated with craniofacial clefts does not in itself affect treatment, the management of frontoethmoidal meningoencephaloceles is dependent on a knowledge of their unique natural history. Long-term follow-up has allowed a number of conclusions to be reached in the light of treatment. Basal and posttraumatic encephaloceles are described with respect to their place in the classification system as well as the principles of treatment.
Encephalocele↗
The cloverleaf skull anomaly: managing extreme cranio-orbitofaciostenosis.
The cloverleaf skull anomaly represents the most manifestly extreme form of cranio-orbitofaciostenosis with hydrocephalus that has to date been associated with a uniformly poor outcome and frequent death in infancy. Assessment of the primary deformity and the approach to treatment in a consecutive series of 10 patients with the cloverleaf skull anomaly in the one unit are presented. Early predictable surgical correction of the cranio-stenosis is possible by fronto-orbital advancement and lambdoid craniectomy. Less satisfactory correction of hydrocephalus and orbitostenosis is possible with the attendant increased morbidity. Early survival and the potential for a satisfactory long-term outcome depend on the management of the faciostenosis and an airway that may be anomalous at multiple levels. The initial approach was routine tracheostomy, which provided short-term relief but with the morbidity associated with such airway maintenance in any environment other than the most sophisticated health services. More recently, upper airway surgery (uvulopalatopharyngoplasty, adenoidectomy, and soft palatal split) has ensured airway control and avoided the progression to tracheostomy. When utilized later (1 to 10 years), such surgery may alleviate the symptoms of upper airway obstruction and sleep apnea and permit delay of midfacial advancement.
Child↗
Aggressive surgical management of sleep apnea syndrome in the syndromal craniosynostoses.
Obstructive sleep apnea syndrome (OSAS) frequently develops in patients with craniosynostosis and associated midfacial stenosis. In the past, conservative measures or tracheostomy have been used to manage this condition. Although the course of OSAS in these patients is multifactorial, a major factor is the marrow nasopharyngeal space. Aggressive surgical intervention to enlarge the nasopharyngeal space can reduce the severity of OSAS and therefore avoid the need for tracheostomy. Surgical approaches include adenotonsillectomy, uvulopalatopharyngoplasty, and midface advancement.
Child, Preschool↗
Crouzon twins with cloverleaf skull malformations.
We describe unique monozygotic twins with Crouzon's disease and cloverleaf-shaped skull deformities who have been closely followed since birth. Their abnormal skull shapes were identified during antenatal ultrasound examination. The twins had gross exophthalmos and hydrocephalus with papilledema, so early calvarial decompression surgery was required. Although born to healthy parents of normal appearance, a third cousin of the twins had a milder form of Crouzon's disease, and there was a family history of high-arched palate on the twins' paternal side. Because Crouzon's disease is an uncommon condition and the cloverleaf skull shape is unusual in patients with Crouzon's disease, identical twins with this constellation of deformities must be exceptionally rare.
Airway Obstruction↗