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A sporadic and a familial case with multiple synostosis (symphalangism syndrome) are described with the demonstration of other symptoms (e.g. fusion of middle ear ossicles with conductive deafness). The differential-diagnosis of about 15 syndromes including symphalangism is discussed.
The hemicallotasis technique was used to treat the fifth metacarpal in a hand with congenital synostosis of the fourth and fifth metacarpals. Lengthening and correction of the metacarpal were achieved simultaneously. Continuous traction eliminated further soft-tissue procedures. The appearance and function of the hand were much improved.
We describe a growth-retarded newborn infant with craniosynostosis, microcephaly, hydrancephaly, oligodactyly, humero-radial synostosis, and normal chromosomes. The combination of anomalies has hitherto been unreported and we consider this to be a "new" syndrome.
A second girl with the unique combination of auditory canal atresia and scapulohumeral synostosis is reported. This patient also had bilateral clubfeet and genital abnormalities. The other patient reported with this syndrome and the presently reported child both had consanguineous parents. Mental development was normal in both children. The acronym SAMS (Short stature, Auditory canal atresia, Mandibular hypoplasia, and Skeletal abnormalities) was suggested to describe the main manifestations in this syndrome.
We report on a young man with a syndrome of mental retardation, abnormalities of the brain, sensorineural deafness, hypospadias, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, and abnormal dermatoglyphics. This appears to be a previously undescribed MCA/MR syndrome.
We report on a patient with a severe premature calvarial synostosis and epidermal hyperplasia. The phenotype was consistent with that of a mild presentation of Beare-Stevenson syndrome but molecular analysis of the IgIII-transmembrane linker region and the transmembrane domain of the gene encoding the FGFR2 receptor, revealed wild-type sequence only. Subsequently, molecular analysis of the FGFR3 receptor gene identified a heterozygous P250R missense mutation in both the proposita and her mildly affected father. This communication extends the clinical spectrum of the FGFR3 P250R mutation to encompass epidermal hyperplasia and documents the phenomenon of activated FGFR receptors stimulating common downstream developmental pathways, resulting in overlapping clinical outcomes.
The clinical features, surgical and anatomical concepts based on an evaluation of the development of the anterior cranial fossa in metopic synostosis are discussed. Thirteen cases of trigonocephaly of infancy during last 4 years are described. Five children were mentally retarded. A more marked triangular cranial configuration with acute nasopterional angle was associated with more severe mental retardation and other unfavorable conditions, including cardiopulmonary disorders and chromosome anomalies. From a quantitative analysis of the anterior cranial fossa development obtained from CT measurement in comparison with values in normal infants, the following procedures appeared to be important: (1) correction of acute nasopterional angle, achieving a flat forehead; (2) forward advancement of both pterions and anterolateral parts of the frontal bones, rebuilding the orbital roof and frontal eminences; (3) shortening of the overgrown midline structure by removal of the bony ridge of the metopic suture. Our procedure on the basis of these measurements for determination of surgical intervention is described.
Metopic synostosis is a relatively simple form of craniosynostosis, resulting from premature fusion of the metopic suture. In this pathology different degrees of dysmorphia of the anterior cranial fossa and the presence of associated anomalies of the skull might enable specific subgroups to be identified. Since most functional and cosmetic anomalies benefit from early surgical treatment, over the last few years neurosurgeons have been forced to elaborate less drastic, but nonetheless effective, surgical techniques. In the present report we analyze the surgical results obtained in a series of 62 infants with trigonocephaly operated on within their 1st year of life. Patients were subdivided into two groups (group I: 8 patients; group II: 54 patients) according to the specific dysmorphic characteristics of the frontal bone and anterior cranial fossa, and the presence of compensatory deformities affecting the anterior cranial base and temporo-parietal region. All the patients were treated using one of two relatively simple surgical techniques (procedure A: inversion of two hemifrontal bone flaps--48 cases; procedure B: the "shell" operation--14 cases). Both surgical procedures appeared to be effective, allowing adequate functional and cosmetic correction of the cranial deformity. In patients operated on following procedure B surgical time and blood loss were dramatically reduced. Long-term outcomes were satisfactory in all cases, irrespective of the surgical technique used. In the group II patients, however, progressive normalization of the interorbital distance was constantly observed, suggesting a different degree of stenotic involvement at the level of the anterior cranial base in these patients.
Three dimensional computed tomography (CT) is a relatively new method of arranging the elements of CT slices into a morphological image with a multi dimensional appearance. It is of particular use in craniofacial deformities. The following report shows its use in the pre and post operative assessment of frontal skull deformity in three infants with coronal synostosis.
INTRODUCTION. Sagittal synostosis can be surgically corrected by a variety of surgical procedures, all of them, however, burdened by a significant cosmetic impact owing to the visibility of the surgical scar. TECHNICAL NOTE. In this note, the author describes a surgical procedure that utilizes six strategically placed short scalp incisions instead of the traditional S-shaped or biparietal scalp incisions. Though still allowing effective correction of the malformative condition, the new procedure has only a minor cosmetic impact and leads to easier intraoperative and postoperative management of the patient. The procedure can be carried out using both standard or endoscopic techniques.
A number of craniosynostotic disorders have recently been ascribed to mutations in genes coding for the fibroblast growth factor receptors(FGFRs). The common feature of these FGFR-associated conditions is the unilateral or bilateral premature ossification of the coronal suture. One distinct craniosynostotic condition is trigonocephaly, which results from the premature fusion of the metopic suture. Trigonocephaly mostly occurs as isolated cranial defect; however, the premature closure of the metopic suture may represent a feature of more complex craniosynostotic conditions in which a progressive involvement of other cranial sutures with age is observed. The possible involvement of mutated FGFRs in trigonocephaly was investigated in nine newborns affected by isolated premature synostosis of the metopic suture. All except one of these cases carried no mutations in the FGFR1-3 domains indicated as hot spots for craniosynostosis-associated mutations. A T(978)C transition in the FGFR2 exon IIIa was found in a patient who had a phenotype that apparently fitted the trigonocephalic condition at birth, but showed additional facial anomalies, which worsened progressively with age towards a Crouzon-like profile. The present finding points out the importance, from both diagnostic and prognostic points of view, of early FGFR mutational screening in craniosynostotic conditions, even in forms that apparently do not involve closure of the coronal suture at birth.
This report quantitatively compares long-term head remolding achieved by two methods for retarding bone reunion after midline craniectomy for sagittal suture synostosis. In one group of six children the adjacent bone edges were overlayed with 1.0-cm-wide U-channel silicone strips, and in the other group, composed of seven patients, a considerably larger extent of the adjacent cranium was covered with silicone sheets. Mean percent change in the cephalic indices of the former group 18 months postoperatively was 9.1% +/- S.D. = 6.7, and of the latter group 23.7% +/- S.D. = 6.0 (p congruent to 0.01). These results indicate that the use of large silicone sheets lead to a significantly greater normalization of cranial proportions.
This report describes a case of lunatomalacia associated with congenital synostosis between the capitate and the hamate, an association not previously reported. The case was examined in detail, and compared to the findings in the literature including observation regarding prognosis of lunatomalacia.
We followed up 10 patients whose non-syndromal bicoronal synostosis had been operated on with a dynamic cranioplasty technique developed by this craniofacial unit in 1992. With this technique, the growth of the brain is redirected in an anteroposterior direction as wire-mediated compression and restraint are exerted on the transverse and vertical dimensions of the skull. The mean operating time was 160 minutes (range 120-275) and mean stay in the intensive care unit was 36 hours (range 23-58). There was no operative mortality and few complications. The surgical results were assessed objectively by analysis of cephalometric tracings. The mean (SD) cephalic index was 87.6 (4.9) preoperatively and 77.7 (1.8) postoperatively (p = 0.001). The modified Whitaker scale was used as a subjective outcome measurement, and nine patients were classified as Whitaker grade 1 (no additional surgery). One patient required additional intracranial surgery. A questionnaire was sent to all families to obtain an additional subjective measurement of outcome. Parents' satisfaction was high. We conclude that dynamic cranioplasty is a safe and efficient operation for treatment of brachycephaly.
A prospective developmental assessment was performed on 26 patients operated on with dynamic cranioplasty for sagittal synostosis. Because this technique entails the application of compressive force, it was of great concern to assess the effect of surgery on development and mental status. The surgical technique used was a modified pi procedure. Perioperative variables were recorded. Six patients underwent preoperative intracranial pressure (ICP) measurements. To evaluate objectively the developmental outcome, the Griffiths' Mental Development Scales was used for analysis before and after surgery. A parental questionnaire was used for subjective outcome measurement. Preoperative ICP recordings during sleep ranged from 12.8 to 22.8 mmHg (mean, 16.1 mmHg). The mean age at the time for surgery was 6.9 months (range, 4-16 months; standard deviation [SD], 2.32 months). The surgical technique included shortening of the anteroposterior diameter of the skull by a mean of 16.6 mm. The mean global development quotient (GDQ) preoperatively was 104.5 (range, 82-144; SD, 12.4) and the mean GDQ postoperatively was 101.4 (range, 62-129; SD, 13.6). Mean age at follow-up was 16.3 months (range, 9-40 months; SD, 4.04 months). There was no significant correlation between the amount of intraoperative shortening and mental development. In comparison of means, the GDQ preoperatively did not differ significantly from the GDQ postoperatively. The modified pi procedure is safe and efficient. When surgery was performed before 1 year of age, no significant (p = 0.33) effect on mental development-either detrimental or beneficial-was demonstrated.
Virchow (1851) is credited with initially describing calvarial development following premature closure of individual sutures. He noted that resultant compensatory growth occurred perpendicular to the fused suture, resulting in asymmetrical calvarial development. Lambdoid synostosis, whether unilateral, bilateral, or associated with other cranial fusions, is reasonably uncommon. Previous authors report an incidence of less than 10% of all reported cases of premature fusion of the calvarial or skull base sutures. We report 27 patients (20 boys, 7 girls) ranging in age from 3 months to 8 years with unilateral lambdoid craniosynostosis followed over a three-year period. In 19 patients, calvarial reshaping was performed by repositioning a parietooccipital bone flap stabilized with lag-screw fixation to provide an increased radius of curvature to the affected area and to reestablish the resultant craniectomy between the parietooccipital junction and into the posterior fossa retromastoid occipital bone as an appropriate site for growth. Indications for one-stage calvarial reshaping included untreated lambdoid stenosis in older children or a failed simple lambdoid synostectomy after approximately 18 months. Each child experienced significant improvement in calvarial shape and ipsilateral ear position. Although we had no operative complications, two children underwent a second outpatient procedure for removal of hardware palpated by their parents.
Lambdoidal synostosis results in unilateral or bilateral deformities. Patients with this diagnosis often present with moderate to severe deformities at a relatively late period in development. This late presentation limits the options for treatment and methods for correction. Occipital bar advancement and internal osteotomies provide an accurate, reliable, and quantitative method to treat the deformity. This technique addresses the variable degree of asymmetry and the large flattened bony segments. It was performed in 12 patients over 18 months, with good to excellent results.
A consistent pattern of craniosynostosis in the sagittal and bilateral lambdoid sutures is described in three patients. The external cranial ridging associated with fusion of these sutures produces a characteristic triradiate, or "Mercedes Benz," appearance to the posterior skull. Locally marked growth restriction is evident in the posterior fossa with compensatory secondary expansion of the anterior fossa manifesting a degree of frontal bossing which mimics bicoronal synostosis. Although this appearance could lead to inadvertent surgery in the frontal region, attention to the occipital region with wide early suture excision and vault shaping is indicated.