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PubMed1991

Antley-Bixler syndrome: description of two patients.

The Antley-Bixler syndrome comprises malformations of cartilage and bone. The essential signs are a dysmorphic facies with flattening of the central region of the face, humeroradial synostosis with flexed attitude of the upper limbs and swelling of the distal interphalangeal and metacarpophalangeal articulations. Congenital atresia of the nasal choanae, which is often present, makes the prognosis of this syndrome extremely severe. Two patients affected by the syndrome are described. Atresia of the nasal choanae was absent in both. The first patient had genital ambiguity, a condition which has been described in the literature in only two other cases; the second one had all the fundamental characteristics of the syndrome except for humeroradial synostosis, although hypoplasia of the lateral condyle of the humerus and dislocation of the radius are present in association with synostosis between the 2nd metatarsal and the intermediate cuneiform.

Bone and Bones↗
PubMed1997

Antley-Bixler syndrome. Description of two new cases and a review of the literature.

Antley-Bixler syndrome was first described in 1975, and to date 20 cases have been reported. In addition to brachycephaly, the syndrome is associated with midface hypoplasia, often with choanal stenosis or atresia, bilateral radiohumeral synostosis, multiple joint contractures, femoral bowing and long bone fractures, "pear-shaped" nose, dysplastic ears and, occasionally, urogenital or cardiac defects. Survival is closely linked to upper airway obstruction. This, in addition to craniosynostosis, also affects mental prognosis. The cluster of malformations and their severity are variable, and while numerous children have died early from respiratory distress, one third of them are alive and have had quite satisfactory development. With early and effective prevention of respiratory complications and early treatment of craniosynostosis, the overall prognosis can be favorable. The mode of inheritance is probably autosomal recessive, and midtrimester prenatal diagnosis is feasible. Genetic counseling depends on accurate prognostic and therapeutic data. We describe two new cases, a 4-year-old boy with unilateral coronal synostosis and radiohumeral synostosis on the same side and an 18-month-old girl with brachycephaly and imperforate anus.

Abnormalities, Multiple↗
PubMed1976

Age changes in the human frontozygomatic suture from 20 to 95 years.

The frontozygomatic suture of human cadaver material was examined by a combination of histologic, radiographic, and gross tecniques to determine the aging changes in the suture and the approximate age at which sutural fusion occurs. The sample consisted of sixty-One specimens of human beings ranging in age from 20 to 95 years. Observations were made on specimens at age intervals of 5 years. Since the frontozygomatic suture is bilateral, one suture from each specimens was used for radiographic and gross examination for synostosis, and the opposite side was subjected to histologic analysis. The findings of this study have lead to the following conclusions: 1. The human frontozygomatic suture undergoes synostosis during the eigth decade of life, but does not completely fuse by the age of 95 years. 2. Synostosis is a progressive process which commences as small areas of bony union that occur initially within the internal portion of the suture and then progresses to the orbital perisosteal surface. Bony union is not found at or near the facial periosteal surface. 3. The bony surfaces of the frontozygomatic suture become increasingly irregular with advancing age as a result of the formation of projections or interifitations=

Adult↗
PubMed2002

An aetiological classification for developmental synostoses at the elbow.

Synostoses at the elbow joint are rare. The literature divides them into three groups based on the nature of bony ankylosis; the commonest are humeroradial synostoses. Approximately 150 cases have been reported. There are 29 reported cases of humeroradioulnar synostosis and five of humeroulnar synostosis. An anatomical classification was previously described for humeroradial synostoses. Due to significant phenotypic variability we believe a classification based solely on anatomical characteristics will in some cases be misleading. No classification exists for humeroradioulnar and humeroulnar synostosis. By re-examining the literature we have produced a combined classification for all elbow synostoses which more accurately predicts causes. Congenital elbow synostoses often cause little functional disability. Treatment by soft tissue release and osteotomy has been attempted, but although range of movement is initially, improved re-ossification is the norm. Investigation is more complicated and may be helped by classification which identifies syndrome association, risk of organ anomaly, and inheritance pattern.

Child↗
PubMed1986

[Post-traumatic radio-ulnar synostoses in childhood].

This article reports on five children treated surgically during 1973-1975 for posttraumatic radioulnar synostosis. The synostoses had developed as a complication after a proximal radial fracture. Lesion of the proximal ulna plays an important part in creating such an osseous union. Another factor of equal importance is the traumatization of the tissues during surgical treatment of the fracture, especially if debris of the periosteum and fine bone fragments additionally enter into the space between radius and ulna. Formation of excess callus, and hence synostosis, is also promoted if repositioning or re-repositioning of a proximal radial fracture is effected too late. The article presents the technique of surgical treatment of proximal radioulnar synostosis with Lyodura sheathing. Follow-up examination of the five children during an observation period of five years showed good results in two children, a moderate result in one, and poor results of surgery in two cases. Improved results may be expected from further improvement of the surgical method, such as resection of the bicipital tuberosity (tuberositas radii) or from additional partial sheathing of the ulna at the side facing the radius.

Adolescent↗
PubMed1998

Mechanism for superior subluxation of the glenohumeral joint in fibrodysplasia ossificans progressiva.

Progressive heterotopic ossification leads to ankylosis of the major joints in patients who have fibrodysplasia ossificans progressiva. Joint subluxation has not been recognized widely in patients with this disease. The clinical records and radiographs of 79 patients with fibrodysplasia ossificans progressiva were reviewed and, it was found that humeral to chest wall synostosis and subluxation of the glenohumeral joint had occurred in 21% of skeletally immature patients and in 74% of skeletally mature patients. In fibrodysplasia ossificans progressiva, synostosis of the humeral shaft to the chest wall commonly occurs by 7 years of age, well before the age of proximal physeal closure. The continued growth of the proximal humeral physis in the presence of a humeral to chest wall synostosis causes the humeral head to migrate superiorly, thus promoting growth related subluxation. The clinical significance of this finding for patients who have fibrodysplasia ossificans progressiva is unknown, but this unique model will be useful in the study of shoulder biomechanics and growth plate physiology.

Adolescent↗
PubMed1998

Syndromal and nonsyndromal primary trigonocephaly: analysis of a series of 237 patients.

From a series of 1,713 patients with craniosynostosis hospitalized between 1976 and 1996, 237 propositi with metopic synostosis were analyzed. The prevalence of metopic synostosis was estimated in the order of 1 in 15,000 children. Family information was obtained from 184 propositi from 179 families. The male-to-female ratio was 3.3:1. There was no maternal or paternal age effect. A family history was obtained in 10 of the 179 families, giving a 5.6% figure of familial cases. The frequency of twinning was 7.8% with two concordances for metopic synostosis in two monozygotic twin pairs. The male-to-female ratio, the twinning frequency, and the proportion of familial cases in trigonocephaly are very similar to those observed in scaphocephaly, which also involves the longitudinal sutural system. Fetal exposure to valproic acid was noticed in eight cases. The series was divided into two groups: nonsyndromal trigonocephaly (n = 184) and trigonocephaly associated with other malformations (n = 53). The second group included 13 cases of well-delineated syndromes and 40 cases of trigonocephaly associated with one or more malformations, but without any known syndrome, that could be undelineated syndromes. These groups differed significantly in their mental prognosis.

Birth Weight↗
PubMed1995

Genetic study of nonsyndromic coronal craniosynostosis.

From a series of 1265 individuals with different craniosynostoses hospitalized between 1976 and 1993, 260 probands with nonsyndromic unilateral (181) or bilateral (79) coronal synostosis were analysed. The prevalence of craniosynostoses was estimated as 1 in 2100 children. In the group of coronal synostosis, family history was obtained on 192 probands in 180 pedigrees. The male:female ratio was 1:2. The average paternal age was 32.7 +/- 6.4 years, which is significantly higher than normal. In 26 of the 180 pedigrees, a high degree of familial aggregation was observed, giving a 14.4% figure of familial cases. The bicoronal synostoses were significantly more often familial than the unicoronal synostoses. Segregation analysis of these families leads to the conclusion that coronal synostosis is transmitted as a dominant disorder with 0.60 penetrance and 61% of sporadic cases.

Adult↗
PubMed1994

Increased risk of craniosynostosis with maternal cigarette smoking during pregnancy.

We analyzed data from a population-based case control study to determine whether maternal prenatal smoking or alcohol drinking might increase the risk of craniosynostosis. Between 1986 and 1989, the Colorado Craniosynostosis Registry ascertained 233 children whose diagnoses were confirmed by an independent radiologist. Of the 212 (91%) cases who participated 86 had lambdoid, 69 had sagittal, 25 had coronal, 18 had metopic, and 14 had multiple suture synostosis. Random sampling of birth certificate records yielded 367 eligible controls, of whom 291 (79%) participated. Study staff interviewed case and control mothers between 1989 and 1991 for prenatal smoking and alcohol drinking. We used Mantel-Haenszel and polychotomous logistic regression techniques to estimate the relative odds of craniosynostosis for smoking and drinking in all cases and in relevant case subgroups. Smoking was associated with a relative odds of craniosynostosis of 1.7 (95% confidence interval, 1.2-2.6). For smoking of more than one pack per day, the relative odds were 3.5 (1.5-8.4) for all types of synostosis combined, and 5.6 (2.1-15.3) for coronal synostosis. No strong or significant association was noted for drinking. Maternal prenatal smoking may increase the risk of craniosynostosis in this population.

Adult↗
PubMed1991

Advancement-onlay: an improved technique of fronto-orbital remodeling in craniosynostosis.

Eighteen patients with nonsyndromic craniosynostosis underwent fronto-orbital remodeling with an advancement-onlay technique. The mean age of the infants was 5 months (range = 2-11 months) when the procedure was performed for the following indications: unilateral coronal synostosis (n = 10); bilateral coronal synostosis (n = 3); metopic synostosis (n = 2); and multiple craniosynostoses (n = 3). The technique consists of (1) unilateral or bifrontal craniotomy, (2) superior orbital rim recontouring and advancement, and (3) frontal bone graft rotation and onlay. Posteriorly, the frontal bone graft is left "floating," while anteriorly, rigid fixation with microplates and screws has supplanted wire osteosynthesis. The use of rigid fixation prevents uncontrolled "float" of the forehead and eliminates the need for temporal struts. Follow-up time ranged from 6 to 60 months (mean = 2.6 years). There were no serious postoperative complications. Surgical results were good to excellent in 94% of cases and poor to fair in 6%. Only 1 patient with a Kleeblattschädel deformity required major revision, while another patient with trigonocephaly underwent a minor, extracranial recontouring procedure. Supraorbital rim and/or forehead recession suggestive of relapse or initial inadequacy of anterior projection occurred in 3 patients (17%). Residual, mild contour abnormalities of the forehead and/or temporal regions were found in 5 cases. To date, no gross disturbances in craniofacial growth related to our method of rigid fixation have been observed and no clinically detectable resynostosis has occurred.

Craniosynostoses↗
PubMed2003

Ultrasound screening of the lambdoid suture in the child with posterior plagiocephaly.

BACKGROUND: The child with posterior plagiocephaly may have positional molding or unilateral lambdoid synostosis. Molding responds to conservative treatment, lambdoid synostosis requires surgical reconstruction. CT is diagnostic, but uses ionizing radiation, may need sedation, and the incidence of lambdoid fusion is only 2-3%. OBJECTIVE: The purpose of this prospective study was to evaluate ultrasound as a screening test of lambdoid sutural patency using CT as the reference standard. MATERIALS AND METHODS: In total, 41 children having head CT examinations were enrolled over 6 months. Of those, 29 were referred for abnormal head shape and suspected synostosis, of whom two had lambdoid fusion; 12 were referred for indications not related to head shape and found to have a normal study. Ultrasound scanning and interpretation of the lambdoid sutures was performed blinded to the CT reference standard. The lambdoid suture was read as patent or fused if a hypoechoic gap could or could not be seen between the hyperechoic calvarial bones, respectively. RESULTS: The mean sensitivity and specificity of ultrasound in distinguishing a patent from fused lambdoid suture by three blinded pediatric radiologists was 100% and 89%, respectively. CONCLUSIONS: Sonography of the lambdoid sutures shows excellent preliminary promise as a screening test of lambdoid sutural patency.

Cranial Sutures↗
PubMed1998

High-resolution sonography of the abnormal cranial suture.

OBJECTIVE: The purpose of this investigation is to elucidate the sonographic features of abnormal major cranial sutures. MATERIALS AND METHODS: Eight excised synostosed suture specimens were evaluated. The high-resolution sonographic appearance was correlated with the histological section, plain radiographs, CT and MRI. Diastatic and molded sutures were also evaluated with sonography and compared with the normal cranial suture appearance. RESULTS: Synostosed sutures demonstrated one or more of the following features: (a) loss of echo-poor fibrous gap between bony plates (five sagittal and coronal synostoses); (b) irregular thickened inner sutural margin (three lambdoid synostoses); (c) loss of bevelled edge (one lambdoid synostosis); (d) asymmetric anterior fontanelle (one coronal synostosis). Cranial molding results in an overlap of echogenic bony plates. Sutural width (the distance between bony plates) is increased in cases of elevated intracranial pressure. CONCLUSION: Sonography is an inexpensive, radiation-free modality which can confirm synostosis versus molding versus an underlying intracranial lesion as a cause of plagiocephaly. The high-resolution sonographic images also provide a relatively easy means to assess sutural width and may provide information in regard to increased intracranial pressure.

Cranial Sutures↗
PubMed1985

Progressive facial asymmetry as a result of early closure of the left coronal suture.

A longitudinal growth analysis of a patient with premature closure of the left coronal suture is presented. The resultant facial asymmetry of patients with unilateral synostosis of the coronal suture is accompanied by diagnostic facial characteristics and radiographic skull distortions. The midfacial structures distort and grow toward the site of synostosis while the lower face grows away from the site of synostosis. Unilateral craniosynostosis of the coronal suture results in distortions and compensations within the cranial vault and the cranial base. Therefore, with growth of the contiguous facial structures, the facial distortions are magnified.

Brain↗
PubMed2005

[Study of the morphologic variations of the scaphocephaly. Deduction for their systematisation].

PURPOSE: The scaphocephaly is the most frequent craniosynostosis secondary to a premature synostosis of the sagittal suture. Despite this univocal pathogeny there are a great heterogeneity in the skull deformation and their systematisation stay imprecise. The aim of this study was to analyse the different morphology of the scaphocephaly by 3D CT-scan to clarify the different shapes. MATERIAL AND METHODS: This retrospective study was done from the morphometric analysis of forty-two 3D CT-scan (10 girls and 32 boys). The scaphocephaly was classified in two groups according to the systematisation of Stricker and Montaut: the sphenocephaly (large forehead) and the leptocephaly (narrow forehead). The variation of the calvaria shape was analysed and different index were calculated. RESULTS: There were 30 sphenocephaly and 12 leptocephaly. Excepted for the forehead deformation there was a morphometric difference of the occipital pole that was backward rotated in the leptocephaly. In the two groups there were retro-coronal constriction (40.5%) or pre-lambdoid constriction (9.5%) independently of the sagittal synostosis degree. CONCLUSIONS: The morphometric analysis shows that the deformation of the skull secondary to the premature synostosis of the sagittal suture can be different. The adaptative defect of the metopic suture can be to explain this difference. This deformation can be harmonious, or with a retro-coronal constriction resulting in a bitemporal narrowing, or with a pre-lambdoid constriction resulting in an occipital chignon. These results conduce to qualify the surgical correction to adapt at the different shapes.

Child, Preschool↗
PubMed1998

Revision of the ununited one-bone forearm.

Between 1975 and 1995, 7 patients were surgically treated for persistent forearm pain following previously unsuccessful attempts of constructing a radioulnar synostosis using interosseous bone grafting with either cross screw or pin fixation. These prior reconstructive procedures were salvage operations to address symptomatic radioulnar instability. The time interval between index operation and revision surgery was a mean of 12.6 months (range, 4-36 months). The postoperative follow-up period averaged 29.7 months (range, 11-61 months). To address these failed radioulnar arthrodeses, plate osteosynthesis and aggressive bone grafting were used in 5 of 7 patients (group 1) (4 with autologous graft and 1 with demineralized bone matrix). Union was achieved in all 5 patients after a single revision operation. Radiographic evidence of solid union was seen at approximately 4 months. In the remaining 2 patients (group 2), revision synostosis procedures were performed; these involved local bone grafting and repeat transverse screw fixation in 1 patient and iliac crest bone grafting alone in the other. One of these 2 patients progressed to union; the other had a persistent symptomatic fibrous union. The 5 patients in group 1 reported symptomatic relief, while the 2 patients in group 2 were dissatisfied. There were no postoperative complications in our series. Based on our findings, we advocate abundant bone grafting and plating for rigid internal fixation in failed radioulnar synostosis procedures.

Adult↗
PubMed1998

[Trigonocephaly: isolated, associated and syndromic forms. Genetic study in a series of 278 patients].

UNLABELLED: From a series of 1,833 patients with craniosynostosis, 278 cases with metopic synostosis were analysed. The prevalence of metopic synostosis was estimated in the region of 1 in 15,000 children. PATIENTS AND METHODS: All patients with metopic suture fusion were selected, excluding cases where additional sutures were involved. The age at diagnosis was between 15 days and 15 years. The diagnosis was based on clinical and radiological evaluation. The search for associated malformations was based on clinical evaluation, CT or MRI scans, bone X-rays and ultrasounds. If possible, a study of the karyotype was performed in case of associated malformation. Family information was obtained through contact with the families, generally in person or sometimes by telephone. The series was divided into three groups: isolated trigonocephaly (group 1), trigonocephaly associated with other malformations without any known syndrome (group 2) and well delineated syndromes (group 3). RESULTS: There were 213 males and 65 females, a sex ratio of 3.3. Family information was obtained from 222 probands distributed among 216 families. There was no maternal or paternal age effect. The frequency of twinning was 7.9%, with three concordances for metopic synostosis in three monozygotic twin pairs. A positive family history was obtained in 13 of the 216 pedigrees, giving a 6% figure of familial cases. A vertical transmission was observed in only one case; in all other cases, there were two affected children with normal parents. Eleven familial cases were isolated trigonocephalies, and two were syndromic. Nine of the 53 available karyotypes were abnormal, involving the chromosomes 7, 9, 11 or 13. There were 208 observations in the group 1. In 53 cases (group 2), associated malformations involved mainly the heart (12 cases), the limbs (six cases), the brain (five cases) and the genito-urinary tract (four cases). These malformations were unique in 32 cases and multiple in 21 cases. Some: of the observations could represent new syndromes. Seventeen syndromes represented group 3. Nine were chromosomal syndromes. Eleven presented with multiple malformations. An in utero exposure to valproic acid was observed in two cases of the group 1, five cases of the group 2 and one case of the group 3.

Abnormalities, Multiple↗
PubMed2004

Technical aspects and results of surgery for craniosynostosis.

BACKGROUND: The timing and extent of surgery continue to be a matter of discussion in current craniosynostosis management. PATIENTS AND METHODS: We retrospectively reviewed the first 159 children seen from 1996 to 2000 of a total of 243 patients presenting with suspected craniosynostosis. We did not establish a surgical indication in 74 children (47%), either because their malformations were of different origin without associated craniosynostosis (11/7%) or they presented with only mild clinical manifestations of sutural synostosis (63/40%). In 85 cases (53%), we established a surgical indication. Parents did not follow our recommendation in two cases (1%). In 83 cases, we performed diagnosis-related remodeling at the age of 4-12 months. Demographic data, clinical follow-up findings, and regular photo documentation were analyzed. RESULTS: After a mean follow-up of 3 years and 8 months, the results were satisfactory in 68 cases (82%). Of 15 cases (18%) with only limited improvement, two children were submitted to a second intervention. Another two children had to be reoperated on immediately for insufficient hemostasis. In the largest subgroup of children (47) with sagittal synostosis, there was no difference in outcome between surgery performed before and after 6 months of age. DISCUSSION: Surgical indication and assessment of results are based on subjective criteria which limit the comparison with the literature. Our results correspond to those of similar published series. Most of the unfavorable results could be attributed either to inadequate adaptation of the surgical technique to the individual form of the malformation or to a significant secondary loss of correction in multi-sutural synostosis. CONCLUSIONS: The overall results of surgery within the first year of life were satisfactory in 82%. Standard procedures need to be adapted carefully to the individual form of craniosynostosis to avoid unfavorable results. We therefore propose a new surgical technique based on a statistically averaged modular system of skull models to replace freehand remodeling.

Child, Preschool↗
PubMed1991

Results of extended craniectomy including supraorbital advancement in premature coronal and frontal craniosynostosis.

Between 1982-1989 an extended craniectomy including supraorbital advancement was performed in 27 infants. Age ranged from 2.5 to 10 months (median 4.5 months). Six had a premature synostosis of the frontal suture, 11 a monolateral synostosis of the coronal suture and 10 a bilateral coronal synostosis. Eighty per cent had an excellent or good result. The amount of remodelling, as measured by the orbital roof angle, showed a tendency to normalisation of the anterior fossa in the lateral projection 3-4.5 months following surgery. In some of the infants the neurological signs and psychomotor development were ameliorated by the operation. But, in monolateral cases of coronal synostoses a squint of various types was observed more frequently.

Craniofacial Dysostosis↗