Absence of the anterior fontanelle due to a fontanellar bone.

Improved accessibility to supraregional centers in the United Kingdom has led to an increased referral of minor craniofacial anomalies. We have recognized a group of patients referred with absence of the anterior fontanelle and possible associated craniosynostosis. The aim of this study was to assess the group of patients in which the anterior fontanelle was entirely replaced by a single bone, examining associations, relationship to craniosynostosis, and prognostic implications.Eleven patients had fontanellar bones replacing the anterior fontanelle on computed tomographic imaging in the 3-year study period. Five were referred solely because of absence of the anterior fontanelle; and the remainder, because of concern of concomitant craniosynostosis. Five children had associated craniosynostosis (sagittal synostosis, 3; metopic synostosis, 1; and bicoronal synostosis, 1), 1 had acrocallosal syndrome, and 5 had no other craniofacial abnormalities. The patient group with craniosynostosis have been managed in line with the unit protocol and have good early postoperative results (mean postoperative follow-up, 9.4 mo). The 5 patients who had an anterior fontanellar bone as an isolated finding were observed and have developed normally with a mean follow-up of 2 years 1.4 months (range, 8 mo to 3 y 4 mo).Replacement of the anterior fontanelle with a fontanellar bone is an uncommon finding, often associated with craniosynostosis. Cases with craniosynostosis can be treated in line with unit protocols. Isolated anterior fontanellar bones can be managed conservatively without adverse impact on the child.

Patterns of head and neck sarcoma in Australia.

BACKGROUND: Sarcomas affecting the head and neck often require complex management due to the combination of anatomic, aesthetic and oncological considerations. The incidence and patterns of presentation are poorly understood and have not been reviewed in the Australian population. METHOD: This study sourced incidence and demographic data from the National Cancer Registry at the Australian Institute of Health and Welfare for the years 1982-2009 (corresponding to 97.3% of the Australian population). All cases of sarcoma, according to ICD-O-3 classification ((International Classification of Diseases for Oncology, 3rd edition), were assessed. RESULTS: A total of 3911 new cases of sarcoma affecting the head and neck were recorded during the period 1982-2009, including 1383, 2106 and 442 cases arising from skin, soft tissue and bone, respectively. The annual incidence rate of sarcomas affecting the head and neck was 1.59 per 100 000 population. The incidence of head and neck sarcoma rose substantially in older age groups (age 65 years and above) and was most common in male patients (69%). Malignant fibrous histiocytoma (MFH) was the most common pathology. There was an increase in incidence in skin-origin sarcoma in the head and neck, particularly affecting elderly males. CONCLUSION: The incidence of head and neck sarcoma in Australia is higher than that reported for an equivalent European population. The increase in MFH arising from the skin in elderly male patients mirrors the patterns of common cutaneous malignancy, particularly melanoma, suggesting that ultraviolet radiation is an epidemiological factor. Management of head and neck sarcoma is complex and best managed in a specialist multidisciplinary environment.

Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review.

BACKGROUND: Saethre-Chotzen syndrome is a syndromic craniosynostosis defined by a genetic mutation affecting the TWIST1 gene on chromosome 7p21. It is typically associated with unicoronal or bicoronal synostosis, eyelid ptosis, dysmorphic external ears, and other variable facial and limb abnormalities. Surgical management of the craniosynostosis addresses the calvarial deformity and may relieve or reduce the risk of intracranial hypertension. The aim of this study was to assess surgical intervention, with particular consideration of the reoperation rate for intracranial hypertension, in Saethre-Chotzen syndrome patients. METHODS: A retrospective case note analysis was performed on all patients with a confirmed TWIST1 gene abnormality who attended the Oxford Craniofacial Unit over a 15-year period. Each patient's mutation and clinical features were recorded. Surgical intervention and sequelae were examined in greater detail. RESULTS: Thirty-four patients with genetically confirmed Saethre-Chotzen syndrome were identified. All had craniosynostosis (bicoronal, 76 percent; unicoronal, 18 percent; bicoronal and sagittal, 6 percent), and the majority had eyelid ptosis, low frontal hairline, and external ear anomalies. Thirty-one patients had received surgical intervention. Nine of 26 patients (35 percent) with at least 12 months of follow-up after primary intervention and eight of 19 patients (42 percent) with at least 5 years of follow-up developed intracranial hypertension necessitating secondary calvarial surgery. CONCLUSIONS: Despite standard surgical intervention, patients with Saethre-Chotzen syndrome have a high rate (35 to 42 percent) of recurrent intracranial hypertension necessitating further surgical expansion. All patients with either bicoronal synostosis or unicoronal synostosis with syndromic features should be screened for TWIST1 mutations, as this confers a greater risk than nonsyndromic synostosis of the same sutures. Regular follow-up throughout the childhood years is essential.

Tessier no. 7 cleft: a new subclassification and management protocol.

BACKGROUND: Tessier described rare craniofacial clefts anatomically. The no. 7 cleft is a lateral facial cleft consisting of macrostomia, lateral facial muscular diastasis, and bony abnormalities of the maxilla and zygoma. Early computed tomographic imaging provided preliminary insight into the bony abnormality. This article reviews this patient group, defining the clinical and radiological features, to advise optimal protocol management. METHODS: A retrospective case-note review of 15 patients with Tessier no. 7 clefts managed by the Australian Craniofacial Unit over the past 25 years was performed. Cases of hemifacial microsomia and Treacher-Collins syndrome were excluded. Clinical features of the patient group were analyzed with photography (all clefts) and imaging (seven clefts). Surgical management and outcome are reviewed. RESULTS: Fifteen patients and 18 clefts (three bilateral) were treated during the time period of the study. All patients had macrostomia (mean length, 2 cm) and 94 percent had soft-tissue ridging from muscular diastasis directed toward the tragus (44 percent), temporal area (28 percent), or lateral canthus (22 percent). Bony abnormalities included simple clefting of the maxillary molar region in 55 percent, maxillary duplication in 39 percent, and intermaxillary fusion in 6 percent. Surgical intervention included macrostomia repair at the first available opportunity, resection of maxillary duplication (median age, 4 years), and alveolar bone grafting to the cleft (median age, 10 years). Optimal follow-up of these patients is impaired because of long distances required for review. Patients treated with this management protocol have had good functional and aesthetic results to date. CONCLUSIONS: This article describes the Tessier no. 7 cleft in great detail and suggests a new subclassification of the bony abnormality. An adjusted management protocol is proposed to address the bony abnormalities of cleft and duplication, with favorable outcomes for treated patients with this condition.

Gastric duplication cyst causing gastric outlet obstruction.

We report a rare case of gastric outlet obstruction in a newborn infant caused by a gastric duplication cyst. Ultrasound provided a non-invasive and conclusive diagnostic technique, which should be used as a baseline investigation for cases of suspected gastric outlet obstruction.