Anthony D. Holmes

Uses of the Temporalis Muscle Flap in Blanking Out Orbits

We report the use of the temporalis muscle as a transposition flap to obliterate the orbit in 5 patients. In 4 of the cases we split the muscle coronally and passed the anterior part through a window in the lateral orbital wall. In two of these patients, skin grafts were put on both sides of the temporalis muscle-fascia flap, to restore nasal lining and to cover the facial surface simultaneously. In the remaining patients, the muscle was split sagittally to provide a large surface for coverage. The temporalis muscle flap is a versatile one for filling orbits after exenteration.

FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited.

The recent identification of TGFBR2 mutations in Marfan syndrome II (MFSII) [Mizuguchi et al. (2004); Nat Genet 36:855–860] and of TGFBR1 and TGFBR2 mutations in Loeys–Dietz aortic aneurysm syndrome (LDS) [Loeys et al. (2005); Nat Genet 37:275–281] [OMIM 609192] has provided direct evidence of abnormal signaling in transforming growth factors β (TGF‐β) in the pathogenesis of Marfan syndrome (MFS). In light of this, we describe the phenotypes and genotypes of five individuals. Patient 1 had MFS and abnormal cranial dura. Patient 2 had severe early onset MFS and an abnormal skull. Patients 3 and 4 had probable Furlong syndrome (FS). Patient 5 had marfanoid (MD) features, mental retardation (MR), and a deletion of chromosome 15q21.1q21.3. All patients had a condition within the MFS, MD‐craniosynostosis (CS) or MD‐MR spectrum. The names of these entities may become redundant, and instead, come to be considered within the spectrum of TGF‐β signaling pathway disorders. Two recurrent heterozygous FBN1 mutations were found in Patients 1 and 2, and an identical novel heterozygous de novo TGFBR1 mutation was found in Patients 3 and 4, in whom altered fibrillin‐1 processing was demonstrated previously [Milewicz et al. (2000); Am J Hum Genet 67:279]. A heterozygous FBN1 deletion was found in Patient 5. These findings support the notion that perturbation of extracellular matrix homeostasis and/or remodeling caused by abnormal TGF‐β signaling is the core pathogenetic mechanism in MFS and related entities including the MD‐CS syndromes.

Frontoethmoidal encephaloceles: reconstruction and refinements.

Frontoethmoidal encephaloceles are herniations of the intracranial contents through a defect in the skull at the junction of the frontal and ethmoidal bones. They are generally classified as nasofrontal, nasoethmoidal, and naso-orbital, although there may be some overlap or multiplicity. The records of 35 patients treated for frontoethmoidal encephaloceles were examined. Of these, 12 cases with complete and accurate medical records were evaluated in detail. The successful correction of frontoethmoidal encephaloceles was shown to depend on the following: a detailed understanding of the pathological anatomy (such as interorbital hypertelorism rather than true orbital hypertelorism and the presence of secondary trigonocephaly), careful planning of the bone movements to correct these deformities, and attention to detail regarding the placement of scars, positioning of the medial canthi, and the nasal reconstruction. Avoiding the “long-nose” deformity often seen after repair should be a priority. In general, the authors recommend a one-stage repair with both a transcranial and external approach.

Analysis of morbidity and mortality in surgical management of craniosynostosis.

Abstract Multidisciplinary care involving plastic surgery and neurosurgery is generally accepted as optimal to manage craniosynostosis to avoid complications and to identify patients at risk. We conducted a retrospective 30-year review of craniosynostosis surgery at a single major craniofacial institute to establish the rate and predictors of complications. Medical records of 796 consecutive patients who underwent primary surgery for craniosynostosis from 1981 to 2010 at our institute were analyzed for complications. Complications were defined as intraoperative and postoperative adverse events requiring changed management. Reoperation was defined as a repeat transcranial procedure. Multivariate logistic regression was used to identify predictors for complications or revision. Across the years, the procedures evolved from technically simple to complex, which increased complications but better outcomes. Complications occurred in 111 patients (14%), and 33 (5.4%) needed major revision. Multivariate analysis identified multisuture and syndromic craniosynostosis, more recent surgeries, younger age (<9 months), spring-assisted cranioplasty, longer surgery, and greater transfusion as predictors of complications. Patients with syndromic and multisutural craniosynostosis and those operated on younger than 9 months had increased risk of major revision surgery for regression to phenotype. Our experience over 30 years indicates that pediatric transcranial craniosynostosis surgery can be safely carried out in our tertiary referral center. There were no deaths from primary surgery, and complication and reoperation rates mirror those of other published studies. Syndromic and complex craniosynostosis predicted both complications and need for major revision. Spring cranioplasty was associated with higher complications. Overall results support a recommended age for craniosynostosis surgery between 9 and 12 months.

Complete correction of severe scaphocephaly: the Melbourne method of total vault remodeling.

Background: A new method of total calvarial remodeling for correcting significant scaphocephaly is described, and experience with the first 30 consecutive patients is presented. Methods: Thirty consecutive patients (22 boys and eight girls) with moderate to severe scaphocephaly who underwent total calvarial remodeling using the Melbourne technique were analyzed retrospectively. Mean age at surgery was 7.5 months (range, 4 to 18 months). All had significant frontal and occipital deformities, bitemporal narrowing, a low cranial index, an anteriorly located vertex, and a narrow posteroinferiorly sloping posterior cranium. Clinical photographs, computed tomographic imaging, and cranial index were evaluated preoperatively and postoperatively. A sufficient follow-up period in 17 patients enabled the measurement of changes in cranial indices. Results: A dramatic improvement in head shape was confirmed subjectively by clinical examination and photographs and, in 17 patients, objectively by analyses of the cranial indices. In these 17 patients, mean preoperative cranial index was 64.6 percent preoperatively (range, 56 to 69.3 percent) and increased to a mean of 77.5 percent postoperatively (range, 72 to 81 percent). The mean increase in cranial index was 12.9 percent (range, 9.5 to 19 percent). Among the 30 patients, overall complications were major in one patient (3.3 percent) (presumed air embolus) and minor in three (10 percent). Conclusions: The Melbourne technique of total vault remodeling consistently achieves a virtually normal head shape. After analysis of the first 30 cases, the authors recommend this as their technique of choice for severe scaphocephaly when the full constellation of deformities is present.

LeFort III internal distraction in syndromic craniosynostosis.

Distraction osteogenesis of the mid-face alleviates the requirements of substantial autogenous bone grafts and donor site morbidity and alleviates the restriction of the soft-tissue envelope in gaining advancement of the mid-face. A prospective study, over a 14-month period, was initiated to evaluate the results of seven consecutive patients undergoing mid-facial advancement who were treated with Le Fort III internal distraction using the MID device. All patients had syndromic craniosynostoses and six patients had previously undergone fronto-orbital advancement. Four patients had symptoms of airway obstruction and one patient was tracheostomy dependent. Six of the patients completed the distraction as planned. Lateral cephalograms were analyzed and the mean linear distraction was 18 mm with a range of 8 mm to 23 mm. Complications included infection (one patient), mechanical failure (one patient), intraoperative fragment dysjunction (three patients), velopharyngeal insufficiency (one patient), conjunctivitis (two patients), trismus (six patients), and bony irregularities. It was concluded that in our Units future protocol for managing infant syndromic synostoses, synostectomies and cranial vault remodeling will be undertaken in infants as before, but that in early childhood, patients with severe mid-facial hypoplasia and/or respiratory compromise will be offered distraction osteogenesis as a substitute for the traditional Le Fort III advancement and bone grafting.

Measuring cranial vault volume with three-dimensional photography: a method of measurement comparable to the gold standard.

The gold standard for measuring cranial vault volume is a computed tomography (CT) scan. Computed tomography scans in the pediatric population carry the significant risk of inducing a malignancy later in life. In a novel study, we show that a three-dimensional (3D) photograph can be used to measure and track cranial vault volume changes in craniosynostosis patients. In a study of adequate power as determined by pre hoc analysis, we demonstrate a greater than 0.91 correlation coefficient between volume as measured by CT and 3D photograph in more than 70 patients presenting to a tertiary craniofacial center (P < 0.001). Volume above a plane running through the lateral canthus (ex) and tragus (t) sag-ex-t on the digital 3D photograph differs from CT by a mean percentage difference of 31.9% (SD, 14.0%; 95% confidence interval, P < 0.0001). A linear regression model was used to determine the equation describing the relationship between volume as measured by 3D photograph and CT; with this equation, the absolute volume of the cranial vault is easily determined using only the 3D image. Interrater reliability is high (>0.99, ICC). The ability to measure cranial vault volume from the 3D photograph adds an important dimension to the complete and objective analysis of skull growth and postoperative change.

Changing epidemiology of nonsyndromic craniosynostosis and revisiting the risk factors.

Abstract Recent studies in Europe and the United States report increased incidence of metopic synostosis. Whether a similar trend had occurred in Australia remains unknown. This research aimed to determine changes in incidence and subtypes of craniosynostosis in Victoria and to identify perinatal risk factors. A retrospective audit of patients (n = 522) presenting to the Royal Children’s Hospital in Melbourne with nonsyndromic craniosynostosis from 1982 to 2008 was undertaken. Perinatal data were sourced from the Victorian Perinatal Data Collection. The changes in incidence of craniosynostosis subtypes were calculated based on Poisson regression, and risk factors for craniosynostosis and subtypes were analyzed by univariate logistic regression analysis. The prevalence of nonsyndromic craniosynostosis was 3.1 in 10,000 live births in Victoria. On average, the incidence of nonsyndromic craniosynostosis increased by 2.5% per year among Victorian live births. Over 25 years, metopic synostosis incidence significantly increased by 7.1% per year in the population of Victoria, outpacing other subtypes. The risk factors for metopic synostosis include being male, multiple births (ie, twins), preterm gestation, low birth weight, high maternal age, and emergency cesarean birth. This study revealed a true increase in incidence of metopic synostosis in Victoria, which could be a result of increased frequency of multiple births, preterm gestation, low birth weight, and high maternal age in the Victorian population from 1982 to 2008. The incidence of other nonsyndromic craniosynostoses, which include sagittal, unicoronal, and multisutural craniosynostoses, however, has remained unchanged.

Primary hemihypertrophy of the face: Review and report of two cases

Two patients who underwent surgical correction for facial hemihypertrophy are presented with a one year follow-up. The aid of computerized tomography in planning the procedures and assessing the stability of the result is discussed.

Nasal dermoid sinus cysts: a retrospective review and discussion of investigation and management.

Nasal dermoid sinus cysts are uncommon congenital anomalies presenting either as cysts or sinuses. They are frequently associated with extension into the intracranial space, requiring craniotomy for adequate resection. At the Royal Children’s Hospital in Melbourne, Australia, we have managed 25 patients with nasal dermoid sinus cysts over 8 years and present details of clinical features, preoperative assessment, and surgical management. Six patients presented with infection, including 1 with osteomyelitis. Four of our patients had intracranial extension of their lesions, and all were treated successfully with tailored investigation and appropriate surgical procedures. Insights into diagnosis, investigation, and surgery are offered to facilitate the management of these challenging lesions.