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At least 19 recordsLinked to original sources
PubMed2003

Humeroradial synostosis and the multiple synostosis syndrome: case report.

Humeroradial synostosis may occur sporadically or as an extremely rare inheritable disorder. The current classification divides cases into class I (fixed in extension with ulnar ray hypoplasia) or class II (fixed in flexion without hypoplasia). Familial cases of class II synostosis segregate into autosomal recessive and autosomal dominant groups. Autosomal recessive pedigrees are heterogeneous. However, when inherited as an autosomal dominant some cases of humeroradial synostosis demonstrate striking similarities limited to the musculoskeletal system: class II humeroradial synostosis, proximal symphalangism, short first metacarpal and metatarsal bones, carpal and tarsal coalitions and a prominent nasal bridge. We believe that when class II humeroradial synostosis is associated with these features, the primary diagnosis is the multiple synostosis syndrome. Furthermore, a prominent nasal bridge is present in the neonate and may aid diagnosis at this stage. We illustrate these findings with the case of a mother and only child, both demonstrating class II humeroradial synostosis and features characteristic of the multiple synostosis syndrome.

Abnormalities, Multiple↗
PubMed1993

Osteotomy of the synostosis mass for the treatment of congenital radio-ulnar synostosis.

Our experience with the surgical treatment of radio-ulnar synostosis in the period from 1985 to 1992 is reviewed. Operative procedures were performed in eight patients with radio-ulnar synostosis. In five patients bilateral, and in three patients unilateral, synostosis was present. The results were better in patients in whom synostosis mass osteotomy perpendicular to the longitudinal axis of the forearm was performed. Usually, treatment attempts to achieve a neutral position for the forearm. This position is more suited to unilateral synostosis than to bilateral synostosis. Vascular and/or neurological complications did not arise during the operation or during the follow-up period. All patients were satisfied with the operative outcome.

Adolescent↗
PubMed2003

Metopic synostosis: Defining the temporal sequence of normal suture fusion and differentiating it from synostosis on the basis of computed tomography images.

Only the metopic suture normally fuses during early childhood; all other cranial sutures normally fuse much later in life. Despite this, metopic synostosis is one of the least common forms of craniosynostosis. The temporal sequence of normal physiologic metopic suture fusion remains undefined and controversial. Therefore, diagnosis of metopic synostosis on the basis of computed tomography images alone can prove misleading. The present study sought to determine the normal sequence of metopic suture fusion and characterize both endocranial and ectocranial suture morphology. An analysis of computed tomography scans of 76 trauma patients, ranging in age from 10 days to 18 months, provided normative craniofacial data that could be compared to similar data obtained from the preoperative computed tomography scans of 30 patients who had undergone surgical treatment for metopic synostosis. Metopic suture fusion was complete by 6 to 8 months in all nonsynostotic patients, with initiation of suture fusion evident as early as 3 months of age. Fusion was found to commence at the nasion, proceed superiorly in progressive fashion, and conclude at the anterior fontanelle. Although an endocranial ridge was not commonly seen in synostotic patients, an endocranial metopic notch was virtually diagnostic of premature suture fusion and was seen in 93 percent of synostotic patients. A metopic notch was not seen in any nonsynostotic patient. The morphologic and normative craniofacial data presented permit diagnosis of metopic synostosis based on computed tomography images obtained beyond the normal fusion period.

Cranial Sutures↗
PubMed1996

Mandibular dysmorphology in unicoronal synostosis and plagiocephaly without synostosis.

Patients with unicoronal synostosis (UCS) or plagiocephaly without synostosis (PWS) have distinctive skull dysmorphologies. Associated mandibular dymorphologies have been suspected but not quantified. This study was performed to test the hypothesis that discrete mandibular dysmorphology exists in both UCS and PWS. All patients at a tertiary referral center at a medical school-affiliated children's hospital with confirmed diagnosis of UCS or PWS with adequate pretreatment CT data were included in the study population, which population was comprised of 20 UCS, 23 PWS, and 8 normal infants. Each patient had a head CT scan using 2-mm slices. 3-D images were created using Analyze, a biomedical imaging program. The mandibles were isolated, and the coordinates of 8 landmarks were sampled from each mandible by a single investigator: a single volume value was measured, and 9 linear distances and 4 angles were calculated. Corresponding measurements from each hemimandible were expressed as ratios of ipsilateral/contralateral side. In UCS, the affected side was defined as the side ipsilateral to the synostosis; In PWS, the affected side was defined as the side ipsilateral to the occipital flattening. The results from both groups were t tested for statistical significance. For UCS, statistically significant (p < .001) findings included: ipsilateral hemimandibular volume 5% smaller than contralateral; affected hemimandibular body length 1.9% shorter; affected gonial angle 2.6% more acute; affected coronoid process tilted anteriorly 2.5%; and distances from condylion and tip of the coronoid process to the chin landmarks 4% shorter on the affected side. For PWS, significant findings included: affected hemimandibular volume 3.8% larger; ramal height 3.5% shorter; mandibular body length 3% longer; and coronoid process tilted anteriorly by 2.3% on the affected side. In the UCS/PWS comparison, findings included: affected hemimandibular volume in UCS 8.7% less; affected gonial angle in UCS 3% more acute; affected mandibular corpus length in UCS 5% shorter; distances from the condylion and the tip of the coronoid process to the chin landmarks 4% shorter on the affected side in UCS. The hypothesized presence of diagnosis specific mandibular dysmorphology in UCS and PWS is confirmed. This analysis forms the baseline for study of the effects of unperturbed growth or therapeutic interventions upon the dentoskeletal dysmorphology of these anomalies.

Cephalometry↗
PubMed1984

Lambdoid synostosis. Part 1. The lambdoid suture: normal development and pathology of "synostosis".

The microscopic development of the normal lambdoid suture was studied in autopsy specimens from 19 normal subjects ranging in age from 20 weeks' gestation to 60 years. The cellular activity at the suture varied considerably with age; however, maximal activity was seen in specimens approximately 3 months of age. There were several unusual features, including a high incidence of cartilaginous differentiation and the presence of intrasutural Wormian bones. Forty-one specimens from 37 patients with isolated lambdoid synostosis were also studied pathologically. Only three cases showed bone union across the suture, which appears to be a result of closure rather than fusion as in other synostoses. The remainder of the cases showed varying degrees of increased cellular proliferation at the suture line, resulting in exaggerated and prolonged sutural activity. Morphologically, this produced increased interdigitation and fibrous adhesion between the suture margins.

Adolescent↗
PubMedDate not supplied

[Clinical and roentgenological characteristics of synostosis frontal plagiocephaly, induced by early synostosis of cranio-cerebral sutures].

In this study authors demonstrate description and analysis of clinical and roentgenological presentations of early synostosis of cranio-cerebral sutures in children. Roentgenological description of cranio-cerebral sutures in infants showed up their significant narrowing and the increase in shadow density, early appearance of ossifications zones in the peripheral parts of the sutures, diffuse increase of cranial bones thickness because of apposition osteogenesis disorder. Results of the study show that many alterations in the cerebral cranium are accompanied with malformations of facial skeleton.

Age Factors↗
PubMed1976

[Distal symphalangia with humeroradial synostosis, carpal synostosis and brachyphalangia of the thumb. A dominant syndrome (author's transl)].

In a family with genetically dominant joint aplasia, 12 of the 27 involved members in four generations had bilateral humeroradial synostoses; the rest, ventral luxation of the radius. In addition, various degrees of malformations and aplasia of the carpal, tarsal and interphalangeal joints as well as shortening of the proximal phalanx of the thumb were observed. All other similar cases described in the available literature differ significantly from those described here.

Abnormalities, Multiple↗
PubMed2005

Correction of unilateral coronal synostosis leads to resolution of mandibular asymmetry in rabbits.

Mandibular dysmorphology in unilateral coronal synostosis has been recognized clinically. In patients with unilateral coronal synostosis, the chin point deviates away from the affected side. To investigate whether this mandibular asymmetry resolves after correction of unilateral coronal synostosis, familial nonsyndromic rabbits were used. Rabbits with unilateral coronal synostosis that underwent "correction" with resection of the affected suture were compared with "uncorrected" rabbits with unilateral coronal synostosis and normal, wild-type rabbits (n = 36; three equal groups of 12). Serial lateral cephalograms obtained at 10, 25, 42, and 84 days showed no asymmetries in wild-type rabbits and progressive asymmetries in the ramal height and mandibular length in uncorrected unilateral coronal synostosis rabbits. However, in corrected unilateral coronal synostosis rabbits, existing asymmetries at 10 and 25 days improved by 42 days and were not seen by maturity, at 84 days. In dry, mature, mandibular specimens, wild-type rabbits showed equal side-to-side measurements and uncorrected unilateral coronal synostosis rabbits showed the following on the affected side: longer ramal height (15 percent), shorter ramal width (13 percent), longer body height (10 percent), and shorter body width (13 percent). By contrast, the corrected unilateral coronal synostosis specimens showed no side-to-side differences in 10 of 11. There were no asymmetries in condylar shape or condylar volume in any of the three groups. Cranial base measurements showed asymmetries of the uncorrected unilateral coronal synostosis specimens that were consistent with an anteriorly positioned glenoid fossa on the affected side. However, only one of 11 corrected unilateral coronal synostosis specimens showed similar cranial base asymmetries. The data showed that mandibular asymmetries in nonsyndromic, familial rabbits with unilateral coronal synostosis are progressive with growth but improve after correction of synostosis.

Animals↗
PubMed2001

Metacarpal synostosis: a simple classification and a new treatment technique.

The current classification of metacarpal synostosis is based on the extent of the synostosis. The authors propose a new classification that takes into account the shape of the metacarpal bones, the curvature of the epiphysis, and the discrepancy in length between the two bones. This classification provides better guidelines for the correction of all components of the deformity. The classification is based on the authors' observations of and experience with 36 cases of metacarpal synostosis; 13 of the deformities were surgically corrected. The I-shaped deformity, whether with distinct (type d) or fused (type f) metacarpophalangeal joints, does not require surgical correction. The U-shaped deformity has parallel epiphysis and does not require surgery unless the two metacarpals are asymmetrical in length (type a) or tightly fused (type t); in these cases, simple lengthening or widening of the space with a bone graft is sufficient. Y-shaped synostosis should be separated whether the branches are symmetrical or asymmetrical, the latter having one branch shorter than the other. Because the epiphyses are already divergent, simple separation does not effectively correct Y-shaped synostosis. The authors propose an osteotomy to isolate a trapezoidal segment of bone from the bifurcation. The isolated bone segment is then reversed in the proximal-distal direction to provide a "plateau" upon which the two distal metacarpals can be realigned. Two cases of Ys (symmetrical) synostosis were successfully treated with this technique; one case of Ya (asymmetrical) synostosis also required distraction lengthening of the shorter metacarpal to achieve an excellent result. One of the most difficult types of metacarpal synostosis to treat is k-shaped synostosis, observed only between the fourth and fifth metacarpals; in this type, the head of the short fifth metacarpal abuts the metaphysis of the fourth. Osteotomy and distraction lengthening provide predictable results for correction of this deformity. The authors suggest that k-shaped synostosis might represent a late evolution of untreated Ua synostosis.

Child, Preschool↗
PubMed2002

Mandibular form in a rabbit model of familial nonsyndromic coronal suture synostosis.

Nonsyndromic coronal suture synostosis produces predictable and well-documented morphologies of the cranial vault with anteroposterior growth restrictions and mediolateral compensatory growth. The potential effects of nonsyndromic coronal suture synostosis on mandibular form are not as clear, however. This study was designed to evaluate whether coronal suture synostosis is associated with alterations in mandibular form by using a familial rabbit model of coronal suture synostosis. To assess this potential relation, the following hypothesis was tested: mandibular form in rabbits with coronal suture synostosis is significantly (P < 0.05) different from that seen in normal rabbits. The cleaned and dried mandibles of 33 adult New Zealand white rabbits were used (12 from normal rabbits, 13 from rabbits with delayed-onset synostosis, and 8 from rabbits with complete coronal suture synostosis). Seven anatomical landmarks on the mandible were located and digitized in three dimensions: anterior molar on the alveolus, posterior molar on the alveolus, coronoid process, anterior pole of the condyle, condylar process, angular process, and mandibular angle. To describe the mandibular condyle, the distance from the anterior pole to the posterior pole of the condyle was measured with digital sliding calipers, as was the distance between the medial and lateral poles. A shape ratio was then created using the dividend of these sums. Statistical analyses of mean form differences between mandibles were executed using Euclidean distance matrix analysis. Statistical analyses of the mandibular condyle linear and shape measurements were analyzed using one-way ANOVA in the three groups. Results showed that complete coronal suture synostosis is associated with significant (P < 0.05) differences in mandibular form compared with that of normal rabbits but that mandibular form in rabbits with delayed-onset synostosis does not differ from that of normal rabbits (P > 0.05). In particular, distances involving the coronoid process in rabbits with coronal suture synostosis were significantly different, paralleling previous work in human patients with coronal synostosis. There are no intrinsic condylar linear or shape differences between any of these groups, however. The form difference noted is most likely secondary to the synostosed coronal suture and may reflect alterations in the cranial base or masticatory musculature in this rabbit model.

Analysis of Variance↗
PubMed1977

Craniosynostosis. II. Coronal synostosis: its familial characteristics and associated clinical findings in 109 patients lacking bilateral polysyndactyly or syndactyly.

This paper is the second part of a survey of 370 patients with craniosynostosis. It concerns 109 patients with coronal synostosis, with or without additional suture involvement who lacked polysyndactyly or syndactyly. Bilateral and unilateral coronal synostosis occurred with approximately equal frequency and there was an excess of males in both groups. Multiple suture involvements was frequent in patients with bilateral synostosis, but was uncommon in those with unilateral involvement. Those patients with bilateral synostosis and additional suture involvement were treated later than those with isolated bilateral synostosis and a possible explanation for this finding is discussed. Forty-seven percent of patients with bilateral synostosis had additional major malformations. Cardiac malformations were significantly more frequent than would be expected by chance. Thirty-five percent of patients with unilateral involvement had major malformations. Twenty-six percent of those with bilateral and ten percent of those with unilateral synostosis were mentally retarded, but retardation was found to be associated either with increased frequency of major malformations or with a complex medical history. Mental retardation is uncommon in simple, uncomplicated coronal synostosis. Twelve of the 104 families showed a positive family history; nine with vertical and three with horizontal transmission. An admixture of unilateral and bilateral suture involvement was the rule, and families with involvement limited to unilateral synostosis did not occur. Certain patterns of characteristic familial minor malformation, particularly of the hands, allow recognition of a number of these familial cases. The recurrence risks for coronal synostosis are discussed.

Abnormalities, Multiple↗
PubMed2001

Clinical characteristics of patients with unicoronal synostosis and mutations of fibroblast growth factor receptor 3: a preliminary report.

Clinical teaching dictates that isolated unicoronal synostosis is sporadic in occurrence and is possibly related to intrauterine constraint. Despite this, isolated reports document a familial occurrence. It has previously been recognized that there may be a familial pattern of inheritance. Recently, mutations in fibroblast growth factor receptors (FGFRs) have been implicated in several syndromic craniosynostoses. At the authors' institution, mutations in FGFR3, located at chromosome 4p16, have been found to cause coronal synostosis. Two cases of unicoronal synostosis were found to have the same Pro250Arg missense mutation in FGFR3. This finding suggested that all patients with a diagnosis of unicoronal synostosis be screened for the FGFR3 mutation. Between January and December of 1996, patients with a diagnosis of plagiocephaly at the Children's Hospital of Philadelphia were evaluated for the FGFR3 mutation. Thirty-seven patients with unicoronal synostosis had mutational studies. Two additional patients were known to have the FGFR3 mutation at the onset of the study. Of the 37 patients screened, four were found to have the FGFR3 mutation, for a total of six patients with both unicoronal synostosis and the FGFR3 mutation. All patients with unicoronal synostosis were evaluated for facial dysmorphology and operative outcome. The six patients with the FGFR3 mutation had more severe cranial dysmorphology and were more likely to need surgical revision than those without the FGFR3 mutation. The occurrence of the FGFR3 mutation among patients with unicoronal synostosis provides evidence for a genetic basis of certain forms of plagiocephaly. The clinical, radiologic, and molecular findings will be an important addition to the surgical management and counseling of patients with unicoronal synostosis.

Adolescent↗
PubMed2000

Quantification of osseous facial dysmorphology in untreated unilateral coronal synostosis.

Unilateral coronal synostosis results in dysmorphology of the midface in addition to well-characterized cranial and orbital deformities. Because most American infants with this problem have undergone cranio-orbital surgery within their first year of life for the past 25 years, a paucity of data exist regarding the natural history of untreated unilateral coronal synostosis. In an attempt to remedy this void, an international search was conducted to identify computed tomography data sets of living individuals with untreated unilateral coronal synostosis; data were obtained from two European centers and one center in the United States. Results limited to the study of the midface are presented here. Digital data from high-resolution head computed tomography scans of 11 living, white individuals with untreated unilateral coronal synostosis were obtained from three craniofacial centers (in Denmark, The Netherlands, and the United States). Image volumes were constructed from each scan using ANALYZE biomedical imaging software. Fourteen pairs of three-dimensional distances were calculated on the ipsilateral (the side of the synostosis) and the contralateral (the side opposite to the synostosis) hemifaces using 11 osseous landmarks. The resulting measurements were expressed as a ratio of the ipsilateral: contralateral sides. Descriptive statistics were derived for the untreated unilateral coronal synostosis population and compared with analogous measurements performed on dried skulls. Age at computed tomography ranged from 1.1 to 21.1 years (mean, 6.6 years; median, 4.1 years). Twelve of the 14 measured distances differed by greater than 5 percent on the ipsilateral side, and all but one of these measurements were decreased on the ipsilateral side when compared with contralateral values. The results of this study support the following conclusions: (1) There are discrete and measurable differences in the facial morphology between patients with untreated unilateral coronal synostosis and normal skulls. (2) Intercenter and international collaboration can provide a sufficient number of individuals with rare craniofacial anomalies to quantitatively determine group characteristics. (3) Quantitative documentation of rare anomaly natural history is necessary for quantitative outcome assessment of treated patients.

Adolescent↗
PubMed1998

Operative treatment of post-traumatic proximal radioulnar synostosis.

The results of operative resection of a post-traumatic proximal radioulnar synostosis performed by one surgeon in eighteen limbs of seventeen consecutive patients during an eight-year period were reviewed retrospectively. The resection was performed an average of nineteen months after the injury; eight limbs had the resection less than twelve months after the injury. A free fat graft was used in the first eight patients. No adjuvant non-steroidal anti-inflammatory medication or low-dose radiation was used postoperatively as prophylaxis against heterotopic ossification. We classified the proximal radioulnar synostoses into three subgroups: A indicated a synostosis at or distal to the bicipital tuberosity (four limbs), B indicated a synostosis involving the radial head and the proximal radioulnar joint (seven limbs), and C indicated a synostosis that was contiguous with bone extending across the elbow to the distal aspect of the humerus (seven limbs). The patients were followed for an average of thirty-four months (range, twenty-four to sixty months). The synostosis recurred in one patient, the only patient in the series who had sustained a closed head injury at the time of the initial injury. Additional complications included a fracture of the ulna, a broken pin on a hinged elbow distractor, and dislodgment of a free nonvascularized fat graft in one patient each. The seventeen limbs that did not have a recurrence regained an average of 139 degrees of rotation of the forearm. With the number of patients available, we could not detect a significant relationship between subsequent rotation of the forearm and the size of the synostosis, the use of interpositional fat, or the concomitant use of a hinged elbow distractor. The eight limbs that had resection of the synostosis less than twelve months after the injury regained an average of 144 degrees of rotation compared with 134 degrees in the nine limbs that had resection at least twelve months after the injury. This difference could not be shown to be significant. In this series, operative resection of a post-traumatic proximal radioulnar synostosis led to good results despite the lack of adjuvant radiation therapy or anti-inflammatory medication.

Adult↗
PubMed1998

A rabbit model of human familial, nonsyndromic unicoronal suture synostosis. II. Intracranial contents, intracranial volume, and intracranial pressure.

This two-part study reviews data from a recently developed colony of New Zealand white rabbits with familial, nonsyndromic unilateral coronal suture synostosis, and this second part presents neuropathological findings and age-related changes in intracranial volume (ICV) and intracranial pressure (ICP) in 106 normal rabbits and 56 craniosynostotic rabbits from this colony. Brain morphology and anteroposterior length were described in 44 rabbit fetuses and perinates (27 normal; 17 synostosed). Middle meningeal artery patterns were qualitatively assessed from 2-D PCC MRI VENC scans and endocranial tracings from 15, 126-day-old rabbits (8 normal, 7 rabbits with unicoronal synostosis). Brain metabolism was evaluated by assessing 18F-FDG uptake with high-resolution PET scanning in 7, 25-day-old rabbits (3 normal, 4 with unicoronal or bicoronal synostosis). Intracranial contents and ICV were assessed using 3-D CT scanning of the skulls of 30 rabbits (20 normal,10 with unicoronal synostosis) at 42 and 126 days of age. Serial ICP data were collected from 66 rabbits (49 normal; 17 with unicoronal synostosis) at 25 and 42 days of age. ICP was assessed in the epidural space using a Codman NeuroMonitor microsensor transducer. Results revealed that cerebral cortex morphology was similar between normal and synostosed fetuses around the time of synostosis. Significantly (P<0.05) decreased A-P cerebral hemisphere growth rates and asymmetrical cortical remodeling were noted with increasing age in synostotic rabbits. In addition, rabbits with unicoronal suture synostosis exhibited asymmetrical middle meningeal artery patterns, decreased and asymmetrical brain metabolism, a "beaten-copper" intracranial appearance, significantly (P<0.05) decreased ICV, and significantly (P<0.01) elevated ICP compared with normal control rabbits. The advantages and disadvantages of these rabbits as a model for human familial, nonsyndromic unicoronal suture synostosis are discussed, especially in light of recent clinical neuropathological, ICV, and ICP findings recorded in human craniosynostotic studies.

Animals↗