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.

Spinal anomalies in Pfeiffer syndrome.

Review of the spinal radiographs of a consecutive series of 11 patients with Pfeiffer syndrome presenting to the Australian Craniofacial Unit was performed. The prevalence of cervical spine fusions was high, and the pattern of fusion complex. Isolated anomalies were evident at lower levels, including two cases of sacrococcygeal eversion. Spinal anomalies occur more frequently in the more severely involved cases of Pfeiffer syndrome emphasizing the generalized dysostotic nature of this condition.

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.

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.