Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “SYNOSTOSIS”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 127 records · Page 7Linked to original sources
PubMed1991

The deformed petrous bone: a new plain film sign of premature lambdoid synostosis.

Towne-view skull radiographs of 38 infants with unilateral lambdoid synostosis were reviewed. The diagnosis of lambdoid synostosis was based on other plain film findings, CT findings, or clinical examination. All patients had deformity of the ipsilateral petrous bone, presumably because of pressure caused by redirected brain growth. Specific changes included flattening of the petrous ridge and depression of the roof of the mastoid portion of the petrous bone and adjacent structures such as the semicircular canals. Flattening of the petrous ridge and depression of the roof of the mastoid portion of the petrous bone are useful signs of lambdoid synostosis when sutural closure has produced sutural indistinctness rather than sclerosis.

Craniosynostoses↗
PubMed1983

Growth of the anterior cranial base after craniotomy in infants with premature synostosis of the coronal suture.

The effect of early craniotomy (age range: 1-6 months) on the growth of the cranial base was studied in 9 subjects with different types of premature synostosis affecting the coronal suture. In 5 of them the premature fusion involved only growth sites in the coronal suture growth complex, while the remaining 4 cases had a diagnosis of a craniofacial synostosis syndrome, such as Apert, Crouzon and Pfeiffer. In all but one of the patients, the craniotomy was not only extended down to the inferior orbital fissures but was also combined with the release of a free-floating fronto-supraorbital bone flap. Follow-up roentgencephalometry to ages ranging from 10 to 36 months indicated that the length and the growth of the anterior cranial base improved considerably after the craniotomy. However, complete normalization did not occur, especially in the subgroup with craniofacial synostosis syndromes. The mid-face of these patients also remained deficient in spite of the craniotomy.

Cephalometry↗
PubMed2000

Sagittal synostosis.

Sagittal synostosis causes predictable malformations depending on the specific suture location that fuses. Anterior fusion causes frontal bossing, whereas posterior fusion causes an occipital knob. Complete sagittal synostosis results in deformity both anteriorly and posteriorly. Variants of each type exist and therefore surgical correction must be tailored to the individual patient. Examples of the different forms of sagittal synostosis are discussed, and the various surgical techniques available are detailed.

Craniosynostoses↗
PubMed1976

Lateral canthal advancement of the supraorbital margin. A new corrective technique in the treatment of coronal synostosis.

In coronal synostosis, in addition to fusion of the coronal suture, the frontosphenoidal and frontoethmoidal sutures are usually closed. A linear craniectomy along the coronal sutures does not affect the synostotic process at the base of the skull. The facility with which the supraorbital margin could be mobilized in Tessier's method of craniofacial repair suggested to us that we could easily modify our approach to coronal synostosis and advance the supraorbital margin, creating an artificial suture at the base of the skull and allowing for proper correction of this disorder. During the past 3 years, we have treated 15 patients with coronal synostosis by this technique, which we have termed lateral canthal advancement. The method of this form of surgical management and its results are discussed.

Craniosynostoses↗
PubMed1984

Lambdoid synostosis. Part 2: Review of cases managed at The Hospital for Sick Children, 1972-1982.

Seventy-four patients with premature union of the lambdoid suture were treated at The Hospital for Sick Children during the years 1972 through 1982. Lambdoid synostosis is considered to be a rare form of craniosynostosis, but this is more likely due to lack of recognition rather than to infrequent occurrence. The skull deformity resulting from lambdoid synostosis is often mistakenly attributed to positional molding rather than to actual synostosis. When the lambdoid suture closes, the occiput on the involved side is flat, the forehead on the same side tends to bulge forward, and the ear on this side adopts a low and forward position. Skull x-ray films may demonstrate obliteration of the lambdoid suture, but more frequently one sees sclerosis along one edge of the closing suture. Radionuclide bone scanning will show increased activity during the active phase of union and decreased or absent activity once union has occurred. Craniectomy performed during the neonatal period will correct the deformity and provide for normal cranial growth. Delay in surgery beyond 6 months will frequently necessitate a more extensive cranial repair.

Cranial Sutures↗
PubMed1991

Surgical treatment of metopic synostosis.

Metopic synostosis can present with various skull abnormalities for which early surgical treatment can provide significant benefit to the patient. Correction of skull deformities associated with metopic synostosis requires accurate assessment of the full range of craniofacial defects within context of the patient's age. Alteration in the characteristics of cranial bone as the child grows older necessitates modifications in techniques used for bony remodeling. Changes in the rate of brain and cranial vault growth also must be considered for adjustments in fixation methods. Thus, both the patient's age and the severity of aesthetic deformity dictate the surgical techniques used in the correction of metopic synostosis.

Child, Preschool↗
PubMed1991

Treatment of syndromic and nonsyndromic bilateral coronal synostosis in infancy and childhood.

The treatment of nonsyndromic and syndromic bilateral coronal synostosis has been outlined. Essential features of this individualized approach include technique modification in bone remodeling and fixation according to the age of the patient as well as additional emphasis on elongating the anterior cranial base or periorbital segment in patients with syndrome-associated bilateral coronal synostosis. Common to the treatment of all patients with turribrachycephaly related to bilateral coronal synostosis is an emphasis on holistic reshaping of the skull afforded by the positioning of the patient in the modified prone position, which gives simultaneous access to the anterior and posterior skull for optimal reshaping of hypoplastic and compensatory abnormalities.

Age Factors↗
PubMed1983

Post-traumatic radioulnar synostosis.

There is a paucity of data about post-traumatic radioulnar synostosis, an unusual but serious complication of forearm fractures. Treatment methods have included excision of the synostosis with interposition of soft tissue or synthetic material, excision of the proximal radius, insertion of a screw to distract the radius from the ulna, and a rotational osteotomy of the radius to improve function. In the case of a 28-year-old woman, the treatment was excision of the synostosis, obliteration of the dead space with muscle, prevention of hematoma formation, and early mobilization. The result was an active range of motion of 80 degrees pronation and 60 degrees supination.

Adult↗
PubMed1995

Metopic and sagittal synostosis: intracranial volume measurements prior to and after cranio-orbital reshaping in childhood.

This study applied a proven method for obtaining intracranial volume measurements using CT scans to (1) measure the intracranial volume of a consecutive series of children with either metopic or sagittal synostosis prior to any craniofacial procedure, (2) perform a standard cranio-orbital operation in each child, follow them longitudinally, and remeasure their intracranial volume 1 year later, and (3) compare their intracranial volumes with those of an age- and gender-matched cohort and review their cranial growth velocity. The study included 18 children who presented sequentially with untreated isolated nonsyndromic sagittal (n = 8) and metopic (n = 10) synostosis between 1987 and 1990 and who subsequently underwent cranio-orbital reconstruction by the senior author (Posnick) in conjunction with a pediatric neurosurgeon. The primary method of osteotomy and bone-graft fixation varied (i.e., wires, miniplates and microplates and screws). The series included 5 females and 13 males with an average age at the time of operation of 27 months (range 6 to 87 months). The postoperative clinical follow-up ranged from 13 to 47 months at the close of the study. Comparison of our patients' preoperative intracranial volumes with age- and gender-matched volumes available through Lichtenberg showed that 16 of 18 (89 percent) had volumes at or greater than the mean, with 44 percent (7 of 16) exceeding 2 standard deviations above the mean. When comparing our patients' late postoperative volumes with the Lichtenberg normative measurements, 94 percent achieved values at or greater than the mean. All patients achieved increased intracranial volume in association with the surgery performed and the time that lapsed between scan intervals. The majority of our patients (16 of 18) followed an intracranial volume growth curve that closely approximated the norm but with a starting point determined by the preoperative value. Two of 18 followed a growth curve that exceeded the rate of expansion expected for normal children. Our findings suggest that premature closure of either the sagittal or metopic suture does not result in diminished intracranial volume prior to or after the cranio-orbital procedures carried out in childhood. For the majority of the children in our study, both the preoperative intracranial volume and the rate of cranial expansion approximated or surpassed that of children without synostosis. The surgical techniques of skull and upper orbital reshaping with varied forms of osteotomy and graft fixation did not result in a global form of growth restriction. These findings are contrary to standard thinking about the biologic effects of craniosynostosis and raise new questions about our rationale for treatment.

Case-Control Studies↗
PubMed1997

Osteoblast-directed osteoclast metabolism from patients with premature coronal synostosis.

Osteoclasts were harvested from explants of five patients with premature unilateral coronal synostosis and plated on devitalized bovine bone wafers. The planar surface areas of resorption lacunae were quantitated by means of light microscopy and a digital imaging system. Osteoclasts isolated from involved regions of premature synostosis exhibited enhanced resorption when compared with osteoclasts isolated from noninvolved cranial bone in the same patients (p < 0.05). When the involved osteoclasts were exposed to conditioned media from non-involved osteoblasts, the in vitro metabolism was reduced consistent with noninvolved osteoclasts. The results suggest there may be a primary cellular defect and that there appears to be a complex coupling between osteoblast and osteoclast function that may lead to sutural synostosis.

Acid Phosphatase↗
PubMed2025

Synostosis of joints caused by mutant FBN2 is linked to the abnormalities and misdifferentiation of articular surface cells.

PURPOSE: FBN2, a high-confidence effector gene for osteoarthritis (OA), was investigated for its potential role in synostosis of joints (SJ) because several OA-related genes are known to cause SJ. METHODS: We analyzed variants in OA-related genes using exome sequencing data from Chinese-Han participants with radioulnar synostosis (RUS). Variants were classified following American College of Medical Genetics and Genomics/Association for Molecular Pathology guidelines. Fbn2 knockout mice were generated via CRISPR/Cas9 and evaluated through radiological and histopathological analyses at multiple developmental stages, with complementary cellular and molecular studies. RESULTS: We identified 15 rare, damaging FBN2 variants in unrelated RUS families, including 7 likely pathogenic variants (4 null variants). Fbn2 knockout mice (both homozygous and heterozygous) exhibited SJ phenotypes. Unlike previously reported SJ mechanisms involving failed interzone formation, Fbn2-related SJ occurred after normal interzone formation. Mutant mice showed significant alterations in extracellular matrix composition and volume within articular surface cells. We proposed that these extracellular matrix changes mediated the transdifferentiation of articular surface cells into osteoblasts, which ultimately developed into bones over time. CONCLUSION: We identified FBN2 pathogenic variants that caused SJ in humans and mice. SJ caused by mutant FBN2 is linked to the abnormalities and misdifferentiation of articular surface cells.

Fibrillin-2↗
PubMed1998

Bicoronal synostosis in a child from historic Omaha Cemetery 25DK10.

Fragmentary cranial remains of a child from a commingled burial in a historic Omaha Cemetery (AD 1780-1800) exhibit bony fusion between the frontal, parietals, and sphenoid. The child's remains are consistent with a developmental age between newborn and 6 months postnatal. Radiological and morphological analyses confirm that this individual exhibits osteological signs pathognomic of bicoronal sutural synostosis, including deformation of the lateral orbital margin. This case, although fragmentary, significantly augments other archaeological cases of coronal synostosis reported in the literature. In addition, an extremely large bregmatic fontanel, expanded anterior cranial fossa, and bossed forehead compared with undeformed individuals suggest the child also suffered from increased intracranial pressure perhaps related to an associated hydrocephaly. Despite the deformity, the remains of this child were treated in much the same manner as other infant remains from the site, including the presence of red mercury pigment on the skeletal remains.

Anthropology, Physical↗
PubMed2002

Spondylocarpotarsal synostosis with epiphyseal dysplasia.

We report on an 11-year-old boy with thoracolumbar fusion, carpal synostosis, short stature, scoliosis, lordosis, defective dentition, and recurrent otitis media consistent with the diagnosis of spondylocarpotarsal synostosis syndrome. Unlike other documented cases, radiographs of our patient at 5(1/2) years of age show delay in ossification of many of the epiphyses in addition to delay in carpal ossification. Such delay may have contributed to the distinctly short stature of this boy. This report both confirms and extends the phenotype of this recently delineated syndrome.

Abnormalities, Multiple↗
PubMed1984

Multiple synostosis syndrome: study of a large Brazilian kindred.

We report a large Brazilian kindred with 28 cases of the autosomal dominant multiple synostosis syndrome. The main anomalies were symphalangism and carpal and tarsal synostoses. Other common findings included synostosis involving other bones, absence of phalanges and nails, short metacarpals, pes planovalgus with prominent lateral border, hypoplastic alae of nose, short upper lip, and dermatoglyphic abnormalities. This may be a variant of the WL syndrome.

Abnormalities, Multiple↗
PubMed1989

Humero-radial synostosis with ulnar defects in sibs.

Sibs with virtually identical humero-radial synostosis (HRS) are presented and compared with 17 previously reported cases from the literature of recessively transmitted HRS. The range of anomalies described includes (in addition to humero-radial synostosis) ulnar hypoplasia, patellar hypoplasia, and chronic glomerulo-nephritis.

Abnormalities, Multiple↗
PubMed1994

Spondylocarpotarsal synostosis syndrome (with or without unilateral unsegmented bar).

Spondylocarpotarsal synostosis syndrome is characterized by autosomal recessive inheritance, failure of normal spinal segmentation causing symmetrical block vertebrae or scoliosis, and lordosis. There is a disproportionately short trunk. Some patients have a unilateral unsegmented bar. Other skeletal changes include carpal synostosis, usually capitate-hamate and lunate-triquetrum. Tarsal synostoses were present in patients in whom the feet were radiographed. Stature is short. The feet are flat. Cleft palate and sensorineural or mixed hearing loss are variable manifestations. We have reviewed the literature and present 6 new patients, 2 of them sibs.

Abnormalities, Multiple↗
PubMed2003

Humeroradial synostosis, ulnar aplasia and oligodactyly, with contralateral amelia, in a child with prenatal cocaine exposure.

Humeral "bifurcation" due to humeroradial synostosis, and amelia are both very rare limb anomalies. We report on a Canadian. Aboriginal boy with both these limb deficiencies. The family history was unremarkable, but he was exposed prenatally to cocaine at the time of limb development. Humeroradial synostosis with ulnar aplasia has been reported by several authors. The majority of cases are unilateral. When both upper limbs arms are involved, cases with oligodactyly often have asymmetrical limb deficiencies and have all been sporadic to date. Some appear to represent cases of the femur-fibula-ulna or FFU complex. Affected individuals with normal hands usually have symmetrical defects and show an autosomal recessive pattern of inheritance. Limb deficiencies have been reported in several infants exposed prenatally to cocaine and have been inducible in animal models. Most are terminal transverse defects or deficiencies of middle digits. When more than one limb is involved, the defects are usually asymmetric. Our case appears to be one of the most severely affected children reported to date.

Abnormalities, Drug-Induced↗
PubMed2005

Sensorineural deafness, abnormal genitalia, synostosis of metacarpals and metatarsals 4 and 5, and mental retardation: description of a second patient and exclusion of HOXD13.

In 1988 Pfeiffer and Kapferer reported on a patient with sensorineural deafness, psychomotor delay, hypospadias, cerebral manifestations, and bilateral synostosis of the 4th and 5th metacarpals and metatarsals. Synostosis of the 4th and 5th metacarpals and metatarsals is a very rare defect that has been described as an isolated Mendelian defect, as part of multiple congenital anomaly (MCA) patterns, and in different syndromes. Among a total of 2,023,155 liveborn infants in the Spanish Collaborative Study of Congenital Malformations (ECEMC), we observed only two cases with this type of metacarpal fusion, for a frequency of 1/1,011,577. One had the isolated defect, and the other one that we are describing here, had an MCA pattern similar to that described by Pfeiffer and Kapferer [1988]. We tested HOXD13 but did not find any mutations in exons and intron-exon boundaries. To our knowledge this case is the second one reported with this syndrome.

Abnormalities, Multiple↗