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PubMed1976

Craniosynostosis. I. Sagittal synostosis: its genetics and associated clinical findings in 214 patients who lacked involvement of the coronal suture(s).

The clinical and genetic findings in 214 patients with sagittal synostosis are described. Seventy-three per cent of the patients were male. Children with sagittal synostosis were treated earlier than those with coronal synostosis. Major malformations occurred in 22%, and 8.9% were mentally retarded. The retardation was clearly unrelated to the synostosis in almost half the patients. The remaining retarded patients had a significantly lower mean birth weight, higher frequency of malformations, and later age at operation than the control group. We believe the late age at operation was due to bias in the ascertainment of this group of retarded children, and that sagittal synostosis was simply one of a number of malformations that can occur in children with intrinsic retardation. Familial data and the skull measurements of a sample of parents of affected children were compatible with multifactorial inheritance; however there is need for prospective family studies and parental measurements on ethnically uniform groups.

Adolescent↗
PubMed1996

Long-term studies of metopic synostosis: frequency of cognitive impairment and behavioral disturbances.

Although the occurrence of cognitive impairment and behavioral disturbances in patients with metopic synostosis has been described, the incidence of this dysfunction has not been established. The records of 36 consecutive children with metopic synostosis followed at one craniofacial center from 1978 to 1993 were reviewed and parental questionnaires were completed to establish the frequency of mental retardation, learning disabilities, and behavioral problems associated with this synostosis. Documentation of syndromes, abnormal karyotype, and central nervous system anomalies also was done. The study group consisted of 27 males and 9 females. The average age at most recent follow-up was 7 years and 1 month (range 6 months to 22 years). Two patients had chromosomal abnormalities (9p syndrome and trisomy 21). On the basis of CT and MRI scans, intracranial anomalies were identified for only one patient having an absent corpus callosum. Thirty-two of the study patients had adequate information for longitudinal assessment. Twenty patients have normal development without apparent disability. Of these, those of school age are at appropriate grade level. Eight patients have mild to moderate learning disabilities or behavioral problems, including attention deficit/hyperactivity disorder and impaired language development. Four patients have significant mental impairment. Impaired cognitive development was not limited to children with abnormal karyotype or central nervous system anomaly. Cognitive and behavioral abnormalities occur in at least a third of patients with metopic synostosis. The, at times, subtle nature of these abnormalities mandates longitudinal developmental and neurologic evaluation for infants with metopic synostosis.

Adolescent↗
PubMed2005

Anthropometric proportion indices in the craniofacial regions of 73 patients with forms of isolated coronal synostosis.

The study group consisted of 73 North American patients (29 males and 44 females), aged between 0-5 months and 20 years, 26 with right, 33 with left, and 14 with bicoronal synostosis. Basic proportion indices were established in 5 craniofacial regions (cranial, facial, orbital, nasal, oral) calculated from 2 projective measurements [cranial: eu-eu, g-op; facial: n-gn, zy-zy; orbital: en-en, ex-ex; nasal: al-al, n-sn; oral: sn-sto, ch-ch (eu, eurion; g, glabella; op, opisthocranion; n, nasion; gn, gnathion; zy, zygion; en, endocanthion; ex, exocanthion; al, alare; sn, subnasale; sto, stomion; ch, chelion)] taken from the patients by the first author before surgery. These data were then compared with the anthropometric norms established for North American whites (Farkas LG. Anthropometry of the Head and Face. 2nd ed. Raven Press; 1994). In males, the total percentage of normal, subnormal, and supernormal proportion indices was smaller than in females in all 3 groups of patients. Generally, the difference in percentage between normal proportions was the smallest (13.1%) and the supernormal one the greatest (68%). In males, the oral measurements showed the highest frequency of normal proportions (100%) in all 3 patient groups, and the cephalic index the lowest (60%-66.7%). Among the abnormal proportions, the supernormal ones were found more often, especially in the cranial region of females with bilateral coronal synostosis (66.7%). Subnormal proportion indices were rare: none were seen in the facial region of males. A subnormal cephalic index (eu-eu/g-op) was not present in either sex in right and bicoronal synostosis and was observed in only 2 males with left coronal synostosis (13.3%). The study showed that the influence of synostosis gradually decreased from the top to the bottom of the face, with the oral region showing no abnormalities.

Adolescent↗
PubMed1975

Functional anatomy of cranial synostosis.

An understanding of how sutural growth processes relate to the totality of cranial growth is necessary to cure the cause and not just the symptoms of cranial synostosis. There is no direct genetic determination for the origin, growth, size, shape or maintenance of bones. Rather, phenotypic expression of skeletal tissues is regulated via genetic information encoded in the cells of functional matrices. The primary morphogenetic event in neurocranial growth is the volumetric expansion of the neural mass, which causes the surrounding neurocranial capsule to expand. Calvarial bones arise at widely separated ossification centers and spread centrifugally towards each other. Premature synostosis of the human metopic suture was noted as a frequent characteristic of the cleft-palate skull. Primary morphological event associated with premature synostosis was a cranial base malformation. Cranial sutures permit passage of the neonatal head through the birth canal, permit slight relative variations between adjacent bones while keeping these same bones relatively approximated. All morphological attributes of carnial bones and of their sutures are extrinsically determined and regulated, including both the normal and premature synostosis of the cranial sutures. It seems reasonable to the author that premature synostosis originates in the early embryonic prosencephalic head organizer, which makes it developmentally understandable.

Animals↗
PubMedDate not supplied

Postnatal changes in the cranial base in rabbits with congenital coronal suture synostosis.

Cranial base abnormalities are a common correlate of human craniosynostosis, although controversy exists as to whether they are primary malformations or secondary deformities. The current study assesses longitudinal cranial base growth and shape changes in rabbits with congenital coronal suture (CS) synostosis. Data were collected from 96 New Zealand White rabbits: 21 with complete bilateral or unilateral CS synostosis; 33 with partial CS synostosis; and 42 unaffected, "control" litter mates. Serial radiographs were taken at 1.5, 6, 12, and 18 weeks of age. Linear, angular, and shape measurements of the cranial base were compared among the three groups. Results revealed that at 1.5 weeks of age, rabbits with complete synostosis had significantly (P < 0.05) shortened anterior cranial bases, orthocephalic cranial base angeles, and acute, dysmorphic cribriform plate triangular shapes compared to the two other groups. Some significant differences persisted through 18 weeks of age. No significant differences were noted between partially synostosed and normal rabbits at any time period. If partial synostosis represents a continuum of the craniosynostotic phenotype, then the craniosynostosis may be seen as the primary deformity in this model and the cranial base abnormalaties as secondary, deformational changes. However, fetal data are still needed to more clearly delineate the role of the cranial base in this congenital rabbit model. Results reiterate the appropriateness and continued development of these rabbits for modeling cases of familial, human non-syndromic coronal suture synostoses.

Age Factors↗
PubMed1982

Prenatal ultrasound detection of humero-radial synostosis in a case of Antley-Bixler syndrome.

The Antley-Bixler syndrome is characterized by multiple skeletal fusions including humero-radial synostosis, anterior bowing of the femora, cardiac and renal malformations and a high incidence of early postnatal lethality. In the pregnancy of a mother who had previously given birth to a child with the Antley-Bixler syndrome, prenatal ultrasound diagnosis was performed at 17 and 20 weeks. Fixed flexion of about 80 degrees in both elbows was seen together with humero-radial synostosis and bowing of the ulnae. The fetus performed jerky craniocaudal movements in its shoulders, but did not, during five hours of real-time observation, move at all in the elbows. Mild anterior bowing of the femora was also observed. The pregnancy was terminated at 21 weeks, and radiological examination of the female fetus confirmed the above mentioned findings including complete bilateral humero-radial synostosis. She also had cardiac and renal malformations. An ultrasound diagnosis of syndromes which have humero-radial synostosis as one feature is possible. Immobility and flexion in the elbows during a long period is probably the essential diagnostic finding.

Abnormalities, Multiple↗
PubMed2005

Surgical correction of metopic synostosis.

BACKGROUND: Premature closure of the metopic suture results in deformation of the anterior portion of the calvarium, which can vary from mild to severe. In mild forms, there is only prominent ridging of the metopic suture; more severe forms result in a marked narrowing of the frontal and temporal regions that in turn affects the supraorbital rims and produces hypotelorism. METHODS: The authors retrospectively reviewed 39 consecutive cases of metopic synostosis treated over a 12-year period. RESULTS: The average age at referral was 5 months, with surgery performed at an average age of 7.5 months. Fifteen infants had other congenital anomalies, with eight having synostosis of other sutures. Follow-up ranged from 7 months to 6 years, with an average of 29 months. In three mild cases, burring of the metopic ridge was performed with excellent aesthetic results in all cases. The other 36 patients had significant deformity of the supraorbital ridges and temporal regions, with obvious hypotelorism for over 50% of the time. In these cases, the patients underwent craniofacial reconstruction to normalize their appearance. In addition, the lateral aspect of the sphenoid ridges, including the orbital roof and lateral orbital wall to the infraorbital fissure, was removed to free the cranial base. The average blood loss was under 400 ml and the average hospital stay was 3.6 days. Results were considered good to excellent in all except three cases, which had recurrence of a prominent metopic ridge; two required a second operation after 6 months for burring of this ridge, whereas the third was treated conservatively with an orthotic headband. CONCLUSION: Mild forms of metopic synostosis can be successfully treated with burring of the metopic ridge alone. Severe forms require craniofacial reconstruction and may be associated with other congenital abnormalities, additional synostosis, and developmental delay. In all cases, the operative procedure must be tailored to the nature and severity of the deformity.

Child↗
PubMed1993

Radio-ulnar synostosis following external fixation.

Post-traumatic radio-ulnar synostosis is an unusual but serious complication of adult forearm fractures. This is the first report of radio-ulnar synostosis following external fixation to be described in the English literature. A 52-year-old man sustained a fracture of the distal radius and ulna which was managed by external fixation. Following this, he developed a radio-ulnar synostosis at the pin-track site. The synostosis was successfully removed and he regained significant rotatory movement of his forearm.

Fracture Fixation↗
PubMed1994

Treatment of traumatic radioulnar synostosis by excision and postoperative low-dose irradiation.

Post-traumatic radioulnar synostosis can have a profound effect on upper extremity function. Prior reports of excision, with and without interposition material, have demonstrated frequent recurrence and disappointing results. Based on a favorable experience with radiation prophylaxis of heterotopic ossification following total hip arthroplasty, this modality has been used in the management of post-traumatic forearm synostosis. Four cases using excision of bony synostosis followed by single-fraction, low-dose (800 cGy), limited-field irradiation are presented. With a follow-up period of 1-4 years after excision and irradiation, all four patients had total arcs of forearm rotation between 115 degrees and 120 degrees. Each patient noted sustained functional improvement, and there was no x-ray film evidence of recurrent synostosis formation. Single fraction irradiation did not require ongoing patient compliance nor did it complicate rehabilitative efforts. Furthermore, soft tissue and bony healing were not impaired.

Adult↗
PubMedDate not supplied

Radioulnar synostosis after the two-incision biceps repair: a standardized treatment protocol.

The purpose of this study was to evaluate the results of a 1-incision posterolateral surgical approach with concomitant irradiation (700 rad) for early resection of synostosis after a 2-incision biceps repair. Between 1992 and 2000, 8 patients with radioulnar synostosis after a 2-incision biceps repair were evaluated and treated, with a mean age of 38 years (range, 29-47 years). The mean time between tendon repair and resection of the synostosis was 7 months (range, 4-14 months). The mean follow-up was 27 months (range, 13-36 months). All patients had 0 degrees of forearm rotation preoperatively. Postoperatively, all patients underwent postoperative radiotherapy in two divided doses for a total of 700 cGy. At a mean follow-up of 27 months, the rotation arc of the forearm improved to 155 degrees (range, 140 degrees -170 degrees ). The strength of supination was 80% (range, 70%-90%) of the contralateral limb. Seven of the eight patients had no pain after activities of daily living or work. One had mild pain after prolonged activity. No radiographic or clinical evidence of synostosis recurrence was seen at final follow-up. We believe that resection of most radioulnar synostoses after 2-incision biceps repair can be achieved safely and efficaciously through one posterolateral incision.

Adult↗
PubMedDate not supplied

[Complete synostosis of the cervical spine at a young age. A thus far unpublished disease].

A case of complete synostosis of the cervical spine in a 12-year-old girl is described. Differential diagnosis included dysontogenetic forms of synostosis, Klippel-Feil syndrome, rheumatic synostosis and synostosis of other inflammatory origin. This severe case, the first of its type to be described, appeared to be due to tuberculosis of the cervical spine.

Cervical Vertebrae↗
PubMed2006

GDF5 is a second locus for multiple-synostosis syndrome.

Multiple-synostosis syndrome is an autosomal dominant disorder characterized by progressive symphalangism, carpal/tarsal fusions, deafness, and mild facial dysmorphism. Heterozygosity for functional null mutations in the NOGGIN gene has been shown to be responsible for the disorder. However, in a cohort of six probands with multiple-synostosis syndrome, only one was found to be heterozygous for a NOGGIN mutation (W205X). Linkage studies involving the four-generation family of one of the mutation-negative patients excluded the NOGGIN locus, providing genetic evidence of locus heterogeneity. In this family, polymorphic markers flanking the GDF5 locus were found to cosegregate with the disease, and sequence analysis demonstrated that affected individuals in the family were heterozygous for a novel missense mutation that predicts an R438L substitution in the GDF5 protein. Unlike mutations that lead to haploinsufficiency for GDF5 and produce brachydactyly C, the protein encoded by the multiple-synostosis-syndrome allele was secreted as a mature GDF5 dimer. These data establish locus heterogeneity in multiple-synostosis syndrome and demonstrate that the disorder can result from mutations in either the NOGGIN or the GDF5 gene.

Bone Morphogenetic Proteins↗
PubMedDate not supplied

Antley-Bixler syndrome: a disorder characterized by congenital synostosis of the elbow joint and the cranial suture.

The Antley-Bixler syndrome is a rare disorder characterized by craniosynostosis, midface hypoplasia, radiohumeral synostosis, joint contractures, arachnodactyly, and femoral bowing and fractures. We report four cases with this disorder, all of which had craniosynostosis, midface hypoplasia with characteristic facial appearance, and contractures of bilateral elbow joints. However, femoral bowing, fractures, and arachnodactyly were not seen in our patients. In addition, proximal phalanges of the thumb and the great toe showed deformity of the delta phalanx in two cases. Characteristic features in these cases were the synostotic deformity of the elbow joint; three had radioulnahumeral synostosis, and one had radioulnar synostosis. Therefore, our cases indicated that various synostotic patterns of the elbow joints may exist in this syndrome. It is reasonable to propose that characteristic craniofacial appearance associated with the synostosis of the elbow joints of various forms should be considered minimal diagnostic criteria of the Antley-Bixler syndrome.

Child, Preschool↗
PubMed2004

Posttraumatic pediatric distal tibiofibular synostosis: a case report.

INTRODUCTION: Posttraumatic pediatric distal tibiofibular synostosis is a rare complication of fractures at this level, unreported at this time. Implications include limb length discrepancy, angular malalignment, and gait and biomechanical abnormalities. MATERIALS AND METHODS: The authors present a case report of this complication in a 7-year-old child and review the relevant English literature. The patient was treated for a closed distal tibia-fibula fracture and developed a synostosis at that level, with valgus malalignment of the ankle joint. The synostosis was resected and latest follow-up 16 months postresection showed near normalization of the ankle malalignment. Possible etiologies, the anatomical and functional ramifications, and treatment recommendations for this condition are discussed. SUMMARY: Posttraumatic tibiofibular synostosis is a rare complication that has a potential effect on limb length and alignment, both at the ankle and the knee in the skeletally immature patient. Prevention, early recognition, and prompt treatment prevent the anatomic and functional abnormalities that could result from it.

Ankle Injuries↗
PubMed2002

Proximal radial resection for posttraumatic radioulnar synostosis: a new technique to improve forearm rotation.

BACKGROUND: Heterotopic ossification about the elbow joint can lead to considerable functional disability, including the loss of forearm rotation. Many procedures have been described for the treatment of proximal radioulnar synostosis. Varying degrees of success have been achieved with regard to the improvement of the flexion arc, but less success has been reported in terms of the restoration of forearm rotation. The success of treatment is associated with the extent of heterotopic ossification, soft-tissue scarring, and anatomical distortion. A new and simple technique to address the unresectable proximal radioulnar synostosis is described. METHODS: Seven patients were managed with a partial proximal radial resection distal to the synostosis and were followed for an average of eighty months (range, twenty-four to 144 months). RESULTS: Forearm rotation improved from an average fixed pronation of 5 degrees to an average arc of 98 degrees (range, 40 degrees to 175 degrees ). The average functional score improved from 57 points preoperatively to 81 points at the time of the final review. Complications included reankylosis at the site of the resection and ulnar-nerve sensory neurapraxia in one patient each. CONCLUSIONS: Resection of a 1-cm-thick section of the proximal part of the radial shaft provides a safe and reliable method of improving forearm rotation in patients with heterotopic ossification of the elbow. A single technical factor that seems to positively influence the result is the application of bone wax at the resection site. This simple procedure is ideally suited for patients who have a proximal radioulnar synostosis that (1) is too extensive to allow a safe and discrete resection, (2) involves the articular surface, and (3) is associated with an anatomical deformity.

Adult↗
PubMed2002

Sagittal synostosis in twin girls.

INTRODUCTION: Sagittal synostosis has been found to occur in families at a low frequency. All previous reports of sagittal synostosis in twins have been of males. CASE REPORT: We now report a case of female twins concordant for sagittal synostosis. CONCLUSION: Our hopes are that this information will further our understanding of the genetics of sagittal synostosis not only in single births but also in that of twins.

Cranial Sutures↗
PubMed1998

Identification of a genetic cause for isolated unilateral coronal synostosis: a unique mutation in the fibroblast growth factor receptor 3.

To determine whether the autosomal dominant fibroblast growth factor receptor 3 (FGFR3) Pro250Arg mutation causes anterior plagiocephaly, patients with either apparently sporadic unicoronal synostosis (N = 37) or other forms of anterior plagiocephaly (N = 10) were studied for this mutation. Of 37 patients with unicoronal synostosis, 4 tested positive for the Pro250Arg mutation in FGFR3, and 33 were negative for this mutation. In three mutation positive patients with full parental studies, a parent with an extremely mild phenotype was found to carry the same mutation. None of the 6 patients with nonsynostotic plagiocephaly and none of the 4 patients with additional suture synostosis had the FGFR3 mutation. Because it is impossible to predict the FGFR3 Pro250Arg mutation status based on clinical examination alone, all patients with unicoronal synostosis should be tested for it. To assess their recurrence risk, all parents of mutation positive patients should be tested regardless of their clinical findings, because the phenotype can be extremely variable and without craniosynostosis.

Craniosynostoses↗
PubMed1998

Obstetrical factors governing the etiopathogenesis of lambdoid synostosis.

Lambdoid synostosis results in skull deformities of varying degrees characterized by occipital flattening over the involved suture and other compensatory changes in skull shape. Such changes include contralateral occipital bossing, contralateral frontal flattening, ipsilateral frontal bossing, and ipsilateral anteroinferior displacement of the pinna (ear shearing). These deformities tend to worsen during the first year of life. The etiology has been attributed to genetic factors and primary disorders of bone growth, in addition to secondary effects of other diseases and modulators of the in utero environment. To determine causal factors in the development of lambdoid synostosis, the authors reviewed medical records of the mothers of 13 children with lambdoid synostosis who were treated at the University Medical Center of the State University of New York at Stony Brook. Pre- and perinatal events, prior obstetrical, gynecological, medical, social, and family histories were considered. Births of normal infants immediately prior to and just after the affected babies were born were selected as controls. There is a significant association between increased duration of the first stage of labor and the development of lambdoid synostosis. Furthermore, our results indicate that this condition has a predilection toward male infants, and may be associated with preterm labor.

Adult↗