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PubMed2004

Undiagnosed obstructive sleep apnea syndrome in children with syndromal craniofacial synostosis.

Children with syndromal craniofacial synostosis have a high risk for obstructive sleep apnea syndrome. Early diagnosis and treatment can relieve symptoms and morbidity. Little is known about the development and natural history of obstructive sleep apnea syndrome through life. The aim of this study was to investigate our experience of clinical history and treatment modalities concerning obstructive sleep apnea syndrome from birth until the current age in children with syndromal craniofacial synostosis. Children with one of the three syndromal craniofacial synostoses (Apert, Crouzon, or Pfeiffer) born between 1984 and 2001 were evaluated. The medical history and symptoms of obstructive sleep apnea syndrome were assessed by retrospective analysis of the medical records. The present and past complaints were explored by means of a questionnaire. Retrospective analysis of the medical records showed a suspicion for obstructive sleep apnea syndrome in 26% of the children compared with 53% in the questionnaire. The severity and presentation of obstructive sleep apnea syndrome were not related to the age of the child. Obstructive sleep apnea syndrome symptoms occurred in almost half of the children during colds. Several symptoms were significantly more common in children with a high suspicion for obstructive sleep apnea syndrome. Treatment modalities consisted of adenotonsillectomies, continuous positive airway pressure, and Le Fort III surgery. Use of a standard questionnaire showed that the suspicion for obstructive sleep apnea syndrome in children with syndromal craniofacial synostosis is much higher than reported in the medical records. Regular screening for obstructive sleep apnea syndrome with a standard questionnaire could be of additional value for the detection of obstructive sleep apnea syndrome in children with syndromal craniofacial synostosis.

Acrocephalosyndactylia↗
PubMed1996

Stability of fronto-orbital advancement in nonsyndromic bilateral coronal synostosis: a quantitative three-dimensional computed tomographic study.

Fronto-orbital dysmorphology in nonsyndromic bilateral coronal synostosis includes frontal flattening, supraorbital recession, and ocular globe protrusion. Surgical advancement of the supraorbital region ("bandeau") is performed to correct these deformities. A retrospective analysis of 10 consecutive patients with nonsyndromic bilateral coronal synostosis was performed to assess the effect of two types of bandeau fixation at the nasion. The advanced bandeau was fixed medially at the nasion with a calvarial bone graft and polyglycolic acid sutures (bone graft/suture group, five patients) or with a microplate (plate group, five patients) and bilaterally at pterion with calvarial bone grafts and polyglycolic acid sutures (all patients). The cranio-orbital dysmorphology and the surgical results were studied using pre-, peri-, and post-operative three-dimensional computed tomographic (CT) data. Reformation, manipulation, editing, and quantitative measurements of the CT data were performed on a computer workstation and Analyze imaging program. Four measurements performed to evaluate the fronto-orbital morphology: the length:width ratio of anterior cranial fossa, ventral globe index, cornea position, and supraorbital rim lag. The ventral globe index assessed the degree of eyeball protrusion out of the orbit cavity. Measurements of the cornea position and supraorbital rim lag were performed on the longitudinal orbit projections of the CT data. Six normal skull CT scans were available for same measurement and comparison. Measurements of the preoperative fronto-orbital dysmorphology in bilateral coronal synostosis were significantly different from those of normal subjects. One year after the surgery, the length:width ratio of the anterior cranial fossa was normalized in both groups. The ventral globe index was improved but not normalized in both groups, whereas the cornea position and supraorbital rim lag were improved in the bone graft/suture group but were normalized in the plate group. Based on the quantitative data, the surgical outcomes in the plate group were significantly better than those in the bone graft/suture group. Major relapse of surgical advancement in the bone graft/suture group seemed to occur in perioperative period. In summary, at 1 year postoperatively, the bandeau advancement improved but did not entirely normalize the fronto-orbital dysmorphology of nonsyndromic bilateral coronal synostosis in either group. We conclude that plate rigid fixation at the nasion provides superior stability for bandeau advancement compared with bone graft/suture fixation.

Bone Plates↗
PubMed1997

The role of the cranial base in facial growth: experimental craniofacial synostosis in the rabbit.

Craniofacial synostosis designates premature fusion in sutures of the cranial vault (calvarium). When craniofacial synostosis is associated with a syndrome (e.g., Apert, Crouzon), premature fusion of the cranial base has been postulated to occur as well. This study was designed to determine whether the primary growth disturbance in craniofacial synostosis is located at the cranial base (i.e., spheno-occipital synchondrosis) or the calvarial vault (i.e., coronal and sagittal sutures) or both. Sixty newborn New Zealand White rabbits were randomly assigned to six groups: (I) calvarial control, (II) cranial base control, (III) cranial base immobilization, (IV) coronal suture immobilization, (V) coronal and sagittal suture immobilization, and (VI) cranial base and coronal and sagittal suture immobilization. An anterior cervical microsurgical approach to the cranial base was used, while cranial vault sutures were exposed through a bicoronal scalp incision. All sutures were fused by periosteal abrasion and application of methyl cyanoacrylate. Cephalograms were taken at 30, 60, and 90 days postoperatively to assess craniofacial growth. Linear and angular measurements of facial, calvarial, and basicranial growth were subjected to multivariate analysis. Analysis indicated that (1) craniofacial length was shortened most significantly by cranial base fusion, (2) cranial base fusion and cranial vault fusion had an additive effect on craniofacial length restriction, (3) the anterior cranial base was significantly shortened by cranial base and cranial vault fusion (p < 0.05), (4) the posterior cranial base was shortened by cranial base fusion only (p < 0.05), and (5) cranial base fusion alone significantly flattened the cranial base angle (p < 0.05), whereas cranial vault fusion alone did not. These results suggest that cranial base fusion alone may account for many dysmorphic features seen in craniofacial synostosis. This model is consistent with the findings of other investigators and confirms both a primary directive and translational role of the cranial base in craniofacial growth.

Animals↗
PubMed2005

Concordant contralateral lambdoidal synostosis in dizygotic twins.

Twin studies have been widely used to investigate genetic versus environmental causality of malformations. While there are numerous reports of concordant sutural fusions in syndromic twins, there are few cases in siblings with nonsyndromic single suture synostosis. Lambdoidal synostosis has no clear genetic etiology. Discordant synostosis has been reported in one monozygotic twin; there is also an unsubstantiated report of concordance in dizygotic twins. We describe dizygotic twins concordant for contralateral lambdoidal synostosis. Mutational analysis for FGFR 1,2,3 was negative. Given the low incidence, absence of reported inheritability, and lack of documented concordance in monozygotic twins, the pathogenesis of isolated lambdoidal fusion can only be ascribed to stochastic influences.

Craniosynostoses↗
PubMed1993

Congenital bilateral coronal suture synostosis in a rabbit and craniofacial growth comparisons with experimental models.

Experimental rabbit models of postnatal coronal suture (CS) synostosis have helped make significant contributions towards the understanding and surgical management of human congenital craniosynostosis. The present study compares craniofacial growth patterns in animals with experimental CS immobilization and in a rabbit born in our laboratory with congenital CS synostosis. The study sample consisted of 10 sham controls, 14 experimental animals with bilateral CS immobilization, and one animal with congenital, bilateral CS synostosis. At 1.5 weeks of age, all animals had amalgam markers placed on either side of the frontonasal, coronal, and anterior lambdoid sutures. At this time, the experimental animals had bilateral CS immobilization using methyl-methacrylate. Serial lateral head x-rays were taken at 1.5, 6, 12, and 18 weeks of age. Results revealed that by 1.5 weeks of age the congenital animal already exhibited changes in the cranial vault, cranial base, midface, and orthocephalic cranial base angles compared to controls. By 6 weeks of age, animals with experimental immobilization showed compensatory growth patterns similar to the congenital animal, particularly at the calvarial sutures and upper midface. This pattern continued through 18 weeks. Results showed that experimental, postnatal CS immobilization produced similar craniofacial growth patterns to those observed for our single congenital animal, but to a lesser degree, and therefore validates, in part, findings from experimental rabbit models of synostosis.

Animals↗
PubMed1994

Development of a strain of rabbits with congenital simple nonsyndromic coronal suture synostosis. Part II: Somatic and craniofacial growth patterns.

In the March 1993 issue of The Cleft Palate-Craniofacial Journal we reported a female rabbit born in our laboratory with complete bilateral coronal suture (CS) synostosis. This follow-up study presents our attempts to breed the animal and establish a strain of craniosynostotic rabbits. The second part of this study presents longitudinal somatic and craniofacial growth data in offspring with coronal suture synostosis. Serial growth data from 72 animals were collected for the present study. The sample consisted of 11 animals (10 offspring and the original female) with complete nonsyndromic unilateral (plagiocephalic) or bilateral (brachycephalic) CS synostosis, 19 animals with partial CS synostosis, and 42 unaffected control litter mates. At 10 days of age, all animals had radiopaque amalgam markers placed on either side of the frontonasal, coronal, anterior lambdoidal, and sagittal sutures. Body weights and serial lateral and dorsoventral head radiographs were taken at 1.5 (10 days), 6, 12, and 18 weeks of age. All animals showed similar body weights at 1.5 weeks of age, while completely synostosed animals exhibited a slight (about 12%), but significantly (p < .001) lowered body weight by 18 weeks of age. Results revealed that by 1.5 weeks of age the completely synostosed animals already exhibited brachycephalic cranial vaults, midfacial hypoplasia, and increased flattening of the cranial base compared to unaffected siblings. This pattern continued through 18 weeks of age, with the partially synostosed animals exhibiting intermediate morphologies.(ABSTRACT TRUNCATED AT 250 WORDS)

Animals↗
PubMed1996

Orbital dysmorphology in unilateral coronal synostosis.

Unilateral coronal synostosis (UCS) produces overt craniofacial dysmorphology. UCS surgery in infancy aims to release the osseous restriction and normalize the fronto-orbital deformity. The quantitative effect of this surgery on the orbit and its contents is unknown. This study was conducted to quantify the preoperative orbital dysmorphology and its surgical outcome in patients with unilateral coronal synostosis. Twenty-eight UCS patients had preoperative three-dimensional computerized tomographic (CT) scans (at mean age 4.0 months), cranio-orbital reconstructive surgery (at 4.7 months), and postoperative scans (at 18.1 months). The CT data were analyzed using a computer workstation and AnalyzeTM biomedical imaging software. Four measurements were performed on both ipsilateral (same side as synostosis) and contralateral (opposite to synostosis) orbits of each scan: orbital index (OI, 100 x height/width of orbit), orbital cavity volume (OV), ocular globe volume (GV), and ventral globe Index (VGI, 100 x globe volume ventral to the anterior surface of orbital cavity/GV). The data were analyzed for statistical significance using Student's ttest. Preoperatively, the OI was significantly greater on the ipsilateral than on the contralateral side (113.7 vs. 87.3). There was a significant improvement on both sides of the orbit postoperatively, with ipsilateral 99.1 and contralateral 92.1. However, the difference between both sides remained significant. The OV was smaller in the ipsilateral orbits both pre- and postoperatively, with ipse/contralateral ratios of 95.8 and 95.2, respectively. Importantly, the GV was consistently smaller in the ipsilateral orbits preoperatively, with an ipse/contralateral ratio of 93.3. The ratio increased to 97.1 postoperatively, a statistically significant change. In the ipsilateral orbits, the preoperative VGI was significantly greater. The VGI improved postoperatively. These data indicate that UCS affects the development of the osseous orbit as well as its soft-tissue contents. After cranio-orbital surgery, there is diminution of asymmetry of both the bony orbit and its soft-tissue contents. Partial normalization of orbital dysmorphology occurred during the first postoperative year. UCS surgery in infancy does not prevent growth of orbital hard or soft tissues, and it seems to permit normalization of previously impaired growth.

Cephalometry↗
PubMed2000

Age-related changes in intracranial pressure in rabbits with uncorrected familial coronal suture synostosis.

OBJECTIVE: Chronic, elevated intracranial pressure (ICP) in craniosynostotic infants may result in ocular and neurocapsular problems; however, not all infants exhibit elevated ICP. Clinical ICP studies are further confounded by small and heterogeneic samples, multiple-suture involvement, and varying surgical management protocols. The present study was designed to describe longitudinal changes in ICP in a large, homogenous sample of rabbits with uncorrected familial, nonsyndromic coronal suture synostosis. METHODS: Ninety-one rabbits were divided into four groups: (1) normal rabbits (n = 28), (2) rabbits with delayed-onset coronal suture synostosis (DOCS; n = 25), (3) rabbits with unilateral coronal suture synostosis (UCS; n = 12), and (4) rabbits with bilateral coronal suture synostosis (BCS; n = 26). ICP was measured at 24 and 42 days of age using a Codman epidural microtransducer. RESULTS: Rabbits with BCS had a significantly (p < .05) higher mean ICP at 25 days of age than rabbits in the other three groups by approximately 146%. However, by 42 days of age, mean ICP in normal control rabbits and rabbits with DOCS was significantly (p < .01) increased compared with their mean ICP values seen at 25 days of age, while mean ICP in BCS rabbits significantly (p < .01) decreased (by 32%) over the same time period. ICP in rabbits with UCS was between that seen in normal control rabbits and rabbits with BCS and did not significantly (p > .05) change over time. CONCLUSIONS: These findings suggest that the degree of suture involvement may be related to early increases in ICP. Possible multifactorial explanations for intracranial decompression and compensation in the craniosynostotic rabbit model are discussed.

Aging↗
PubMed1995

Frontal plagiocephaly secondary to synostosis of the frontosphenoidal suture. Case report.

Frontal plagiocephaly may arise from either synostotic or deformational forces. Deformational causes of frontal plagiocephaly can be distinguished from synostotic causes by differences seen on physical examination, which can then be confirmed by skull x-ray films and if necessary three-dimensional computerized tomography (CT). Unilateral coronal synostosis is the main synostotic cause of frontal plagiocephaly, although it has also been seen with fusion of the frontozygomatic suture. In several syndromes presenting with bilateral coronal synostosis, fusion of the frontosphenoidal and frontoethmoidal sutures is also present. The authors report, for perhaps the first time, a case showing synostotic frontal plagiocephaly secondary to fusion of the frontosphenoidal suture alone. Although the phenotypic appearance is superficially similar to that seen in unilateral coronal synostosis, analysis of the cranial base shows markedly different effects: angulation of the anterior cranial base with respect to the posterior cranial base away from the synostotic side and angulation of the posterior cranial base with respect to the midpalatal suture also away from the synostotic side. In unilateral coronal synostosis, both angulations are toward the synostotic side. These effects on the cranial base alter its relationship to the cranial vault and the facial skeleton. Most important, frontal plagiocephaly secondary to fusion of the frontosphenoidal suture should not be overlooked as being deformational. Because this fusion is difficult or impossible to visualize by skull x-ray films, three dimensional CT must be obtained in cases that are not clearly identified as deformational plagiocephaly by physical examination.

Cranial Sutures↗
PubMed1986

Osseous anatomy of unilateral coronal synostosis.

High resolution, thin slice computerized tomography (CT) scans with paraxial and three-dimensional surface reconstructions were utilized to document the endocranial, exocranial, and orbital anatomy of non-syndromal unicoronal synostosis (UCS). Eighteen patients with UCS were evaluated qualitatively and quantitatively. Of these, 10 were studied both preoperatively and 1 year postoperatively. The endocranial base in UCS is characterized by a 9 degree angulation toward the synostosis of the anterior cranial base with respect to the posterior cranial base. The exocranial base has a 7 degree angulation toward the synostosis between the midpalatal suture and the posterior cranial base. The locus of angulation appears to be posterior to the anterior clinoids endocranially, and between the maxillopalatopterygoid articulations and the mandibular condyle exocranially. The orbital rim height is greater ipsilateral to the synostosis than contralaterally. The analysis documents the normalizing effect of one of two different surgical procedures upon orbital height. Application of computer assisted medical imaging to the study of UCS has allowed in vivo quantitation of cranial base and orbital dysmorphology for both preoperative assessment and postoperative evaluation.

Adult↗
PubMed2000

Spondylocarpotarsal synostosis syndrome and cervical instability.

Spondylocarpotarsal synostosis syndrome is a recently delineated autosomal recessive condition comprising short stature with short trunk, failure of normal spine segmentation resulting in block vertebrae and fusion of posterior elements, carpal and/or tarsal coalition, scoliosis, lordosis, pes planus, dental enamel hypoplasia, decreased range of motion or dislocation of the elbow, renal anomalies, and hearing loss. The vertebral segmentation defects may involve noncontiguous areas of the cervical, thoracic, and lumbar spine. Odontoid hypoplasia was noted in two cases. We report on a sporadic case of spondylocarpotarsal synostosis in a 5-year-old girl with hypoplasia of C1 and odontoid and subluxation of C2 upon C3. This brings the number of well-documented cases of spondylocar- potarsal synostosis to 19, and is the first documenting cervical spine instability. Careful evaluation for this complication should be considered in other cases.

Abnormalities, Multiple↗
PubMed2005

Additional case of Tsukahara's syndrome or new syndrome: further delineation of the association of microcephaly and radio-ulnar synostosis.

In 1994, Giuffré et al. reported two unrelated families in which some of the members had microcephaly and radio-ulnar synostosis, suggesting a new condition. Since this first report, Tsukahara et al. and Udler et al. described two distinct patients with a different condition characterized by radio-ulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation. Here we report on a new case of microcephaly and radio-ulnar synostosis and discuss the possible relationship between Tsukahara's syndrome and the phenotype described by Giuffré et al.

Abnormalities, Multiple↗
PubMed2006

In vivo three-dimensional motion analysis of the forearm with radioulnar synostosis treated by the Kanaya procedure.

Attempts to separate congenital radioulnar synostosis and restore forearm rotation had been disappointing until a new mobilization technique was developed by Kanaya and colleagues using free vascularized fascio-fat graft interposition. This technique provides a functional rotation arc, but postoperative forearm motion is difficult to evaluate given the inaccuracies in determining the range of motion and rotational axis using conventional x-rays or computed tomography. This study represents an attempt to analyze in vivo three-dimensional motion of the forearm with radioulnar synostosis treated by Kanaya's operation using a markerless bone registration technique. Six patients with seven postoperative forearms (six with congenital and one with posttraumatic radioulnar synostosis) underwent 3D computed tomography with the forearm in neutral, fully pronated, and fully supinated positions. Range of motion according to this method was 30 +/- 18 degrees, significantly smaller than the 82 +/- 29 degrees from manual examination. Improvements in range of motion were significantly greater in cases without dislocation of the radial head (46 +/- 13 degrees) than in cases with dislocation (19 +/- 10 degrees). Dislocation of the radial head was also significantly correlated with an abnormal axis of rotation of the forearm.

Adipose Tissue↗
PubMed1986

[Post-traumatic proximal radio-ulnar synostosis].

The posttraumatic synostosis between radius and ulna is one of a rare but grave complication in case of forearm-fracture. Only a few successful treated case-reports are described. This case reports upon a young man with a second-degree open elbow-joint-debris-fracture. Following a proximal radio-ulnar-synostosis happened. Eight months posttraumatic the radio-ulnar-synostosis was operatively eliminated. Subsequent an intermediate dura-cuff was implanted after partial resection of the membrana interossea.

Adult↗
PubMed1987

Congenital radio-ulnar synostosis: compensatory rotation around the wrist and rotation osteotomy.

In order to make clear the clinical features of congenital radio-ulnar synostosis, compensatory rotation around the wrist and functional results after rotation osteotomy, 40 cases of congenital radio-ulnar synostosis have been analysed. The mean pronation of the ankylosed forearm in those who complained of disabilities in daily life was 60.7 degrees and that in patients without complaints was 21.2 degrees. In almost all cases with total ankylosis, the forearm had compensatory movement around the wrist, the mean arc being from 76.3 degrees of pronation to 42.9 degrees of supination. 13 limbs in 11 patients treated by transverse rotational osteotomies through the fusion mass have followed up for over two years. The functional results after surgery were satisfactory in all patients. Rotational osteotomy of the forearm is a useful and reliable treatment for congenital radio-ulnar synostosis.

Adolescent↗
PubMed1993

The treatment of metacarpal synostosis.

One hundred nine patients with metacarpal synostosis were examined to determine the best treatment for this condition. The fourth and fifth metacarpals are most frequently affected, and bilateral involvement occurs often. Many anomalies are associated with synostosis, as well as many syndromes such as Apert's syndrome, central polydactyly, syndactyly, and partial absence of the hand. An osteotomy to split and separate the synostosis, a bone graft to lengthen the fifth metacarpal, collateral ligament reconstruction, and tendon transposition of the extensor digiti minimi quinti all appear to be valuable for the treatment of this rare congenital anomaly.

Abnormalities, Multiple↗
PubMed2006

Sagittal synostosis: I. Preoperative morphology of the skull.

The aim of this study was to characterise the preoperative morphology of the skull in sagittal synostosis in an objective and quantified way. The shapes of the skulls of 105 patients with isolated premature synostosis of the sagittal suture (SS group) were studied and compared with those of a control group of 72 children with unilateral incomplete cleft lip (UICL). A standardised radiocephalometric technique was used to obtain the images. A modification of a method developed by Kreiborg was used to analyse the radiocephalograms, which included the digitisation of 88 landmarks in the calvaria, skull base, and orbit (42 in the lateral and 46 in the frontal projections), the production of plots of mean shape for each group, and the intergroup comparison of a series of 81 variables (linear distance between selected landmarks, and angles defined by groups of three landmarks). Data from a subgroup of 66 patients aged 5 to 8 months were further compared to age-matched normative data in terms of seven angular and linear calvarial, cranial base and orbital variables. In a comparative analysis of the mean lateral plots, the foreheads of the study group (SS) had a more pronounced anterior slope and were also more convex. The vertex area was located more anteriorly, and was less convex. The occipital curvature was more prominent. Analysis of the mean frontal plots revealed a lack in convexity and lateral projection of the upper parietal regions, as well as a lower location of the line of maximum skull width. Comparison of the mean values of an SS subgroup to age-matched normative data showed a longer (p<0.001) and narrower skull (p<0.001) and a greater interorbital distance (p<0.001). The cranial base angle, the sella to nasion, and sella to basion lengths did not differ significantly. Sagittal synostosis is characterised by an extensive deformity of the cranial vault, with an essentially normal cranial base. The widened interorbital distance is probably related to compensatory metopic hyperactivity.

Case-Control Studies↗
PubMed2006

Sagittal synostosis: II. Cranial morphology and growth after the modified pi-plasty.

The aim of this study was to characterise the postoperative cranial growth and morphology after a modified pi-plasty for sagittal synostosis. The shape of the skull of 82 patients with isolated premature synostosis of the sagittal suture (SS group) operated on with a modified pi-plasty was studied longitudinally. Forty-five children with unilateral incomplete cleft lip (UICL), evaluated longitudinally at the ages of 2.4 and 23.2 months were used as controls. A standardised radiocephalometric technique was used for image acquisition. The radiocephalograms were analysed using a modification of a method developed by Kreiborg, which included the digitisation of 89 landmarks of the calvaria, cranial base, and orbit (43 in the lateral and 46 in the frontal projections), the production of mean shape plots for each group, and the intergroup comparison of a series of 78 variables (linear distance between selected landmarks, and angles defined by groups of three landmarks). Paired and unpaired t tests were used to assess the differences between the variables studied. These were accepted as significant for values of p<0.01 and were presented as coloured segments or areas in the respective plots. In a comparative analysis with the mean UICL lateral plots, the mean preoperative lateral plots of the study group (SS) showed that the anterior slope of the forehead was more pronounced and it was also more convex. The vertex area was located more anteriorly and was less convex. The occipital curvature was more prominent. Comparison of the mean frontal plots showed a deficiency in convexity and lateral projection of the upper parietal regions, and the line of maximum skull width was lower. The postoperative mean lateral plots of the study group showed a correction of the exaggerated anterior inclination of the forehead and a reduction of the abnormal occipital convexity. However, there was little change in the vertex region and it remained flatter than in the control group. In the mean frontal plots, the increase in convexity and in the lateral projection of the upper parietal areas led to a shape that was similar to that of the UICL group. The mean (SD) cephalic index changed from 64.9% (1.8%) to 71.4% (3.5%) (p<0.001). The longitudinal comparison between the mean postoperative plots at 3 and 5 years of age showed that there had been little change in cranial shape. In conclusion, after a modified pi-plasty for sagittal synostosis, significant objective changes in cranial shape towards normality were produced. The postoperative profile cranial shape was improved except in the vertex area, which remained flatter than normal. In the frontal projection an almost normal shape was obtained. The postoperative cranial shape obtained at 3 years of age had remained stable at the age of 5 years.

Case-Control Studies↗