Intracranial volume change in childhood.

OBJECT: The goal of this study was to construct a model of normal changes in intracranial volume occurring throughout childhood from age 7 days to 15 years. METHODS: Using the technique of segmentation on magnetic resonance images obtained in healthy children, intracranial volume was measured and plotted against age. CONCLUSIONS: Intracranial volume in the first few months of life is on average 900 cm3 in males and 600 cm3 in females. By the age of 15 years, it increases up to 1500 cm3 in males and 1300 cm3 in females, increased by factors of 1.6 and 2.1, respectively. By the time the child reaches 2 years of age, intracranial volume has reached 77% (1150 cm3 in males and 1000 cm3 in females) and, by 5 years, 90% (1350 cm3 in males and 1200 cm3 in females) of the volume observed at age 15 years. The change in intracranial volume that occurs with age is not linear, but there seems to be a segmental pattern. Three main periods can be distinguished, each lasting approximately 5 years (0-5, 5-10, and 10-15 years), during which the growth of intracranial volume is linear. Throughout childhood, males have higher intracranial volumes than females, with a similar growth pattern.

Intracranial volume change in craniosynostosis.

OBJECT: There is still controversy regarding the optimum time to perform surgery for craniosynostosis. Some recommend surgery soon after birth and others delay until the age of 12 months. Intracranial pressure has been measured in an attempt to provide a scientific rationale, but many questions remain unanswered. To date, little attention has been given to intracranial volume and its changes during the first few years of life in children with craniosynostosis. The authors' goal was to focus on intracranial volume during this period and to compare measurements obtained in patients with craniosynostosis with measurements obtained in healthy individuals. METHODS: Using the technique of segmentation, the intracranial volume of 84 children with various forms of craniosynostosis was measured on preoperative computerized tomography scans. The change in average volume that occurs with increasing age was calculated and compared with a model of normal intracranial volume growth. The age at presentation for children with craniosynostosis was 1 to 39 months; 76% of the patients were younger than 12 months. In eight patients in whom only one cranial expansion procedure was performed, postoperative intracranial volumes were measured as well. Several interesting observations emerged. 1) There was little difference in head growth between boys and girls with craniosynostosis during the first few months of life. After the age of 12 months, however, the difference in intracranial volume normally seen between the two genders was observed in the craniosynostosis group as well. 2) Excluding children with complex pansynostosis, who have smaller heads, children with all other types of craniosynostosis have similar head growth after the 1st year of life, with no difference between the number of and type of suture affected. Children with Apert's syndrome develop greater than normal intracranial volumes after the 1st year of life. 3) Although children with craniosynostosis are born with a smaller intracranial volume, by the age of 6 months volume has reached normal levels, and from that point on volume follows the pattern of normal head growth. 4) Children who presented after the age of 6 months and later developed recurrent craniosynostosis after initial successful treatment had a small intracranial volume at their initial presentation. 5) Of the patients whose postoperative intracranial volumes were measured, all but one had preoperative volumes at or above normal values, and their postoperative volumes were considerably higher than normal for their age. These children all followed a growth curve parallel to that of healthy children but at higher volume value. One patient with a smaller-than-normal initial intracranial volume was surgically treated at a very young age and, despite cranial expansion surgery, postoperative volume did not reach normal levels. It is postulated that this was due to the fact that the operation was performed at a time when craniosynostosis was still active. CONCLUSIONS: The results of this study indicate that the underlying mechanism leading to craniosynostosis and constriction of head volume "exhausts" its effect during the first few months of life. Measurement of intracranial volume in clinical practice could be used to "fine tune" the optimum time for surgery. In late-presenting children, this may be useful in predicting possible recurrence.

Cutaneous nasal sarcoidosis--treatment by excision and split-skin grafting.

We report two cases of nasal sarcoidosis which are both treated by excision and split-skin graft and yield good results after one year and three years' follow-up.

The median cleft face syndrome with associated cleft mandible, bifid odontoid peg and agenesis of the anterior arch of atlas.

A case is reported of median cleft face syndrome with bifid tongue and odontoid peg and failure of formation of the anterior arch of the atlas. These are features which have not been reported previously. The preoperative CT demonstrated its potential to enhance our understanding of complex and rare craniofacial deformities.

The importance of symmetry in forehead flap rhinoplasty.

Five patients who have undergone forehead flap rhinoplasty at the West Midlands Regional Plastic and Jaw Surgery Unit are described. The variations in technique are outlined with particular reference to the symmetrical appearance of the reconstructed nose.

Management of anterior encephalocele.

The authors report their experience with anterior encephalocele, comprising 11 congenital and 11 traumatic cases. Unlike occipital encephaloceles, anterior lesions are usually associated with normal mental development. Surgery aims to restore normal anatomy with repair of the defective dura, bone and skin. Indications, surgical methods and outcome are discussed.

Posterior skull surgery in craniosynostosis.

In 1984, two young infants with unusual "clover-leaf" patterns of skull deformity were treated by posterior skull-releasing surgery that dramatically improved their overall skull shape, to the extent that further operative intervention was not required. This focused our attention on the posterior skull and its role in craniosynostosis. In cases of multi-suture craniosynostosis and craniofacial syndromes severely raised intracranial pressure is frequent, demanding early surgery. One of the problems identified with such surgery undertaken before 6 months of age is recurrent craniosynostosis needing later re-operation. This occurred in 15 (5%) of 275 patients treated between 1978 and 1994. Since 1986, in the presence of significant raised intracranial pressure it has been our policy to do an initial posterior skull release or decompression. This takes the pressure of the growing brain away from the orbits, allowing us to defer fronto-orbital advancement until the age of 12 months or later. Three patients managed in this way completely avoided anterior surgery, while in another 9 patients re-operation for recurrent anterior deformity has not been required. The exception to this policy has been the presence of severe exorbitism posing a threat to vision. Under these circumstances early fronto-orbital advancement is mandatory, and an additional posterior skull release may be helpful later. Debate continues especially on the management of unilateral lambdoid synostosis. The recent increase in positional posterior plagiocephaly. possibly related to supine nursing of newborns, has emphasised the need to differentiate between a fixed deformity, which might require surgical correction, and positional moulding of the occiput, which improves spontaneously. This paper reports our experience with 22 patients treated by posterior skull surgery, either alone or as an additional procedure, which we believe has a definitive role in the management of craniosynostosis.

Transcranial Doppler sonography in craniosynostosis.

In the management of craniosynostosis, there is a need for quantitative assessment of treatment methods and outcome. Radiology and pressure studies are well documented, but so far little attention has been given to cerebral blood flow changes and their possible relevance. This paper reports our initial experience using transcranial Doppler sonography to calculate the cerebrovascular resistance and cerebral blood velocities in the major basal vessels before and after surgery for craniosynostosis. Ten patients were studied using the Scimed 2-MHz probe through the temporal and frontal "windows" of the skull. Measurements were taken under standard physiological conditions before, during and after surgery. Preliminary results suggest that this non-invasive technique may be helpful in predicting and assessing the outcome following surgery for craniosynostosis.

Skull base growth in childhood.

While studying skull base changes in craniosynostosis, it became apparent that there is a lack of reference studies quantifying the changes of three-dimensional (3D) parameters of the normal skull base throughout childhood. Using advanced 3D visualisation techniques, 34 points of the skull base were identified on MRI scans of 66 normal children, aged 1 month to 15 years. Several distances and angles between the various landmarks were measured in an attempt to quantify the growth of skull fossae with age. Two main growth periods were observed: before and after the first 5 years of life. Most change occurred in the first period. Anatomical regional differences were identified between the two sexes. During the first 5 years of life, the anterior fossa showed rapid growth rate with respect to its anterior projection in males, whereas in the females there was a more concentric growth pattern. The body of the sphenoid bone and the middle fossa showed a rapid growth rate in both sexes which was greater in the females. The posterior fossa showed a concentric pattern of growth in both sexes with a greater growth rate in the females. These findings provide new insight into the pattern of growth of the various parts of the skull base and can be used for comparative study of deformities that affect such growth.

Skull base growth in craniosynostosis.

Although considerable scientific work has been published on the role of the skull base in craniosynostosis, the changes with age throughout childhood have not been fully outlined. The realisation that little attention has been paid to the posterior skull in craniosynostosis, resulted in renewed interest in skull base growth. The availability of computer-based image analysis provides a new accurate method of study in three dimensions. Using three-dimensional visualisation techniques, 34 points of the skull base were identified on CT scans of 50 children with craniosynostosis of various types, aged from 1 month to 5 years. Several distances and angles between the various landmarks were measured in an attempt to quantify the growth of skull fossae with age. Comparisons were made with normal controls. In children with craniosynostosis, the anterior fossa was overdeveloped in the males, whereas in the females remained underdeveloped throughout the first 2 years of life. The body of the sphenoid showed moderate underdevelopment in the first 2 years in both sexes, the effect being more prominent in the males. The middle fossae showed overdevelopment in both sexes in the first 2 years of life. The posterior fossa was underdeveloped in both sexes in the first 2 years of life, the effect being more prominent in the females. Craniosynostosis seems to affect both sexes to a similar degree, but there are regional differences in the growth pattern. Better understanding of the normal growth pattern of the skull base and the effect of craniosynostosis upon it may assist our approach to surgical treatment and in particular the role of anterior and posterior skull expansive surgery.

Skull repair in children.

Skull defects in children may be congenital or acquired after trauma, infection or tumor. For defects that do not close spontaneously a variety of repair (cranioplasty) materials are available including bone, metals and acrylic. Where possible calvarial autogenous bone is preferred, particularly in younger infants, but in older children especially with large defects other methods may be useful.

Surgery for unilateral coronal synostosis (plagiocephaly): unilateral or bilateral correction?

Debate still exists concerning the extent of frontal reconstruction for the correction of plagiocephaly resulting from unilateral coronal synostosis. Between 1982 and 1994, 38 patients with unilateral coronal synostosis have been treated in our department. Initially, a unilateral frontal craniotomy with advancement of the ipsilateral supraorbital bar was used in 13 patients. An unsatisfactory postoperative appearance of the forehead led to modification of the technique using a bilateral frontal bone flap. This allowed simpler and improved forehead reconstruction. The method was used in 22 patients. Three patients with severe deformity had the complete supraorbital bar advanced in one piece and the forehead reconstructed with a bilateral frontal flap. The late results were analyzed using a clinical scoring system to grade residual deformity. The patients in the two main groups had similar characteristics. The mean age at first operation was 30.8 months for the first group and 20.1 months for the second group. Mean length of follow-up was 7.9 years for the first group and 4.6 years for the second group. No significant operative complications were observed. In two patients, one from each group, recurrent deformity developed, requiring further surgery. Analysis of the mean scores obtained at set intervals during the first 4 postoperative years showed that forehead correction with a bilateral frontal bone segment and unilateral supraorbital bar advancement provides better early cosmetic results in the first postoperative year. After that interval, the results of the two techniques are similar, with overall good final cosmetic appearances. The patients in the third group who had the complete supraorbital bar advancement with bilateral frontal bone remodeling had more pronounced deformity initially and had a less satisfactory late result. These findings confirm the clinical impression that bilateral frontal bone remodeling offers a better immediate surgical result from the cosmetic point of view compared with other techniques.

Birmingham Craniofacial Score: a scoring system for craniofacial deformities.

A system was devised to score facial and head appearance in craniofacial patients in an attempt to quantify the severity of craniofacial deformities and measure the effect of corrective operations. It was deliberately kept simple to be "user friendly," and it must be regarded as incomplete. It has all the limitations of other scoring systems, but nevertheless it consistently reflects the results of operations, allowing quantitative comparisons and statistical analysis. It should be emphasized that deformity, not aesthetics, is measured. Fifteen features are scored. For every normal feature 1 point is awarded; for every abnormal feature, no point is scored. The range, therefore, extends from 0 to 15. In practice, there seems to be good correlation between the total score and the degree of deformity. A score of 13 or greater indicates that the appearance is cosmetically very good and the patient could be regarded as normal; a score ranging from 9 to 12 indicates a definite deformity; and a score of 8 or lower indicates the deformity is severe.

Fronto-orbital re-operation in craniosynostosis.

The need for fronto-orbital re-advancement is reported from all cases of craniosynostosis operated on in the Birmingham and Oxford Craniofacial Units since 1979. Analysis of the 219 cases demonstrates a significantly higher re-operation rate in cases of syndromal craniofacial dysostosis or unilateral coronal synostosis initially operated on below the age of 6 months. Mild bicoronal, sagittal and metopic synostotic cases, however, did uniformly well with the timing of initial surgery having little influence on the re-operation rates.

Visual failure caused by raised intracranial pressure in craniosynostosis.

Craniosynostosis, the premature fusion of one or multiple cranial sutures, can be complicated by visual failure resulting from raised intracranial pressure (ICP). Of the 290 children operated on at the Birmingham Children's Hospital between 1978 and 1995 for craniosynostosis, 9 were found to have defective visual acuity attributable to raised ICP. Mean age at presentation was 3.11 years (range: 1-6 years) and mean follow-up, 7.33 years (range: 1.5-16 years). All these patients presented significantly later than usual, and 5 of them developed recurrent craniosynostosis. At the initial examination bilateral papilloedema was seen in 4 patients, unilateral disc oedema in 1 patient, bilateral optic atrophy in 3 patients and unilateral optic atrophy in 1 patient. Following decompressive craniofacial surgery, the visual outcome was good in 4 out of 5 patients with papilloedema and poor in all patients with optic atrophy. visual failure resulting from raised ICP in craniosynostosis is a devastating complication, which appears to be associated with late presentation and recurrent craniosynostosis.

Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.

Craniosynostosis, which affects approximately 1 in 2000 children, is the result of the abnormal development and/or premature fusion of the cranial sutures. Studies of mutations in patients with craniosynostosis have shown that the family of fibroblast growth factor receptor genes are extremely important in the correct formation of the skull, and digits. Mutations in the third immunoglobulin domain of fibroblast growth factor receptor 2 (FGFR2), in part of the molecule corresponding to a tissue specific isoform (IIIc), can cause both Crouzon and Pfeiffer syndromes. Two specific mutations in the linking region between the second and third immunoglobulin domains of FGFR2 occur in Apert syndrome. We present here mutations associated with the Crouzon syndrome, also in the third immunoglobulin domain but in an upstream exon. This exon is expressed in both tissue isoforms. Five different mutations were detected in 11 unrelated individuals. A cysteine to phenylalanine change was found in six individuals. This cysteine forms half of the disulphide bridge maintaining the secondary structure of the immunoglobulin domain. The first deletion within an FGFR gene is reported. Together with mutations in exon IIIc these account for 25 mutations out of 40 Crouzon patients studied in our combined series (5).