Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “CRANIOSYNOSTOSES”

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 451 records · Page 25Linked to original sources
PubMed1979

Trisomy 6q25 to 6qter in a severely retarded 7-year-old boy with turricephaly, bow-shaped mouth, hypogenitalism and club feet.

Trisomy for a small terminal segment of chromosome 6q produces a characteristic syndrome of malformations and dysmorphic signs which, on the basis of comparison with a previously published case, may be suspected on clinical grounds. The present case concerns a 7-year-old boy, the son of a carrier mother t(6;14)(q25;qter). The main symptoms are: very severe physical and mental retardation, turricephaly, Cupid's bow mouth with narrow lips, almond-shaped eyes with narrow palpebral fissures and ptosis, micropenis with absence of scrotum, club feet, hammer toes, and extension contractures. In addition, there are a great many minor dysmorphic features.

Abnormalities, Multiple↗
PubMed1987

Experience in Egypt with 25 cases of craniosynostosis and forehead advancement.

The authors' experience in 25 cases of craniosynostosis treated within a period of 2 years is described. The morphology of the skull has varied from one case to the other, so that modification of the technique was needed in each case. There was no mortality, but two complications were encountered: CSF subcutaneous collection that resolved spontaneously and an almost complete absorption of the neoforehead and part of the frontal bar due to infection.

Adolescent↗
PubMed1988

Nosographic identification and classification of plagiocephaly.

A classification of anterior plagiocephaly is proposed by the authors on the basis of the clinical and radiological findings analyzed in a series of 28 subjects less than 1 year old. Three main patterns of the anomaly have been identified. Type I anterior plagiocephaly is characterized by unilateral flattening of the frontal bone and elevation of the superior orbital ridge without deviation of the nasal pyramid. The vomer and petrous bones maintain a normal position. In type II anterior plagiocephaly, the frontal and orbital anomalies are accompanied by contralateral deviation of the nasal pyramid and homolateral anterior displacement of the petrous bone. A deviation of the sphenobasilar bone is associated with the above regard to the anomalies in type III anterior plagiocephaly. The three types of this particular form of craniosynostosis differ with difficulties involved in surgical management and outcome.

Craniosynostoses↗
PubMed1992

A new method for the creation and measurement of experimental craniosynostosis.

Craniosynostosis is described as a condition in which the premature closure of one or more cranial sutures is exposed as a skull deformity alone or accompanied by neurological disturbances. According to previous research it seemed possible to create an experimental model for investigating the disease by simply resecting a suture in a newborn rabbit. We resected 16 coronal sutures in 16 newborn rabbits and had the skulls investigated for shape and histology up to 6 months of age. A clear deformity at the cranial vault could be detected. The fused site of the suturectomy later on presented a suture-like structure which was macroscopically distinct from a normal skull suture. The procedure is thus established, first, for investigating procedures for treating craniosynostosis in the growing skull, and, secondly, for studying the pathophysiology of craniosynostosis.

Animals↗
PubMed1986

Chromosome 7 short arm deletion, 7p21----pter.

A case report of a de novo deletion in the short arm of chromosome 7 is presented (46,XX,del(7)(p21----pter)). The five-month-old girl's major symptoms are: trigonocephalus with craniosynostosis, median bony forehead bulge, high palate, atrial septal defect, anal atresia and perineal fistula, thumb insertion far to ulnar-proximal, and a slightly retarded psychomotor development. The other cases with monosomy 7p described in the literature are reviewed.

Abnormalities, Multiple↗
PubMed1985

A craniosynostosis in a boy with a del(7)(p15.3p21.3): assignment by deletion mapping of the critical segment for craniosynostosis to the mid-portion of 7p21.

A tiny interstitial deletion of 7p was found in a 5-month-old boy with a craniosynostosis and many anomalies. His karyotype was 46,XY,del(7)(p15.3p21.3). Here we present not only further evidence of an association between craniosynostosis and 7p monosomy, but also deletion mapping to indicate that the critical segment for craniosynostosis lies in the mid-portion of 7p21, that is at 7p21.2 or the proximal part of 7p21.3.

Chromosome Banding↗
PubMed1975

Short arm deletion of chromosome 12: report of two new cases.

Two boys (W.M. and C.P.) are described, in each of whom a short-arm deleted C chromosome was apparently present. The clinical findings on W.M. are stenosis of the sagittal sutura associated with atrophy of the nervus opticus and mental retardation, and on C.P. osteogenesis imperfecta. An analysis of the G- and Q-banding patterns revealed in each patient a 12p-- chromosome. The deletion involved most of band p12 as shown by length measurements on G-banded chromosomes. Both cases were compared to proven and presumed cases of 12p-- from literature, but no common clinical phenotype could be demonstrated.

Chromosome Aberrations↗
PubMed1976

Chromosome 7 short arm deletion and craniosynostosis. A 7p-syndrome.

A patient with craniosynostosis and a small deletion of part of the short arm of chromosome 7 is described. A review of the literature indicates that craniosynostosis has occurred in at least four of the five infants (the fifth having microcephaly) affected by structural changes (resulting in deletion) within the terminal region of the short arm of chromosome 7.

Blood Group Antigens↗
PubMed1995

Autosomal dominant holocalvarial craniosynostosis.

Isolated holocalvarial synostosis with normal intelligence is described in two pairs of sibs from one kindred. Diagnosis was delayed until the age of 5 years in the pro-band. The gene carriers were asymptomatic and had no head deformity. The genetic pattern is consistent with autosomal dominant inheritance.

Age of Onset↗
PubMed1994

Consensus: nosographic identification.

Since hydrocephalus cannot be regarded as a single entity but is a group of illnesses whose pathophysiology remains unexplained in many aspects, its classification is particularly important. Various types of hydrocephalus are discussed with special reference to their etiology. The need for more research work is stressed.

Brain↗
PubMed1994

Refractive error and ocular motility in plagiocephaly.

Plagiocephaly, which is caused by premature closure of one of the coronal sutures, leads to fronto-orbital asymmetry. The aim of this work was to study the repercussions of orbital deformation on the visual system. Twenty-one patients presenting with plagiocephaly at birth and operated on by the same craniofacial technique (bilateral approach with translation and advancement of the entire involved orbits) were included in the study. All of the patients were examined by clinical anthropometry with three-dimensional reconstruction and underwent complete eye examination by the same observer. Follow-up after craniofacial surgery ranged from 15 months to 4 years. In the last few years, three-dimensional reconstruction has shown that the anatomic region affected by the deformation is the frontozygomatic region and has thus made it possible to advance to another theory on the origins of ocular problems. The severe effect of orbital anomalies on the development of the visual system (binocular vision, strabismus with amblyopia, refractive errors) has been emphasized in the literature. The present study shows that the scheduling of reconstructive surgery is fundamental and must not exceed 6 months, given the immaturity of the visual system up until this time. This means that the ophthalmologist must be able to recognize the various craniostenoses in order to schedule reconstructive surgery as soon as possible. Cooperation between the neurosurgeon and the ophthalmologist is of paramount importance if the pathogenic effects of this bone deformation are to be stopped and proper visual development preserved.

Astigmatism↗
PubMed1994

The skull base in plagiocephaly.

Between 1975 and 1992, 426 children with craniofacial malformations were treated in the Department of Pediatric Neurosurgery at the Hôpital des Enfants de la Timone in Marseille. Plagiocephaly was present in 71 (16.6%). The authors present a reproducible analysis of the skull base in plagiocephaly based on these 71 patients. A control group of Mediterranean children (n = 20) was used for comparison. Clinical anthropometric patterns were analyzed in all cases. Comparison with the control group showed a difference only in the nasion-lambda distance. Data obtained from clinical anthropometry were compared for the involved and the uninvolved sides. A three-dimensional reconstruction was possible in 20 cases. The statistical correlation between the basal angles (nasion-pterional, nasion-petrosal, nasion-clino-basion, and zygomatic angles) of the involved and uninvolved sides allows a new nosographic identification of this complex malformation.

Cephalometry↗
PubMed1994

Transcranial Doppler sonography in craniosynostosis.

In the management of craniosynostosis, there is a need for quantitative assessment of treatment methods and outcome. Radiology and pressure studies are well documented, but so far little attention has been given to cerebral blood flow changes and their possible relevance. This paper reports our initial experience using transcranial Doppler sonography to calculate the cerebrovascular resistance and cerebral blood velocities in the major basal vessels before and after surgery for craniosynostosis. Ten patients were studied using the Scimed 2-MHz probe through the temporal and frontal "windows" of the skull. Measurements were taken under standard physiological conditions before, during and after surgery. Preliminary results suggest that this non-invasive technique may be helpful in predicting and assessing the outcome following surgery for craniosynostosis.

Blood Flow Velocity↗
PubMed1995

Subdural intracranial pressure monitoring in craniosynostosis: its role in surgical management.

In the management of craniosynostosis subdural intracranial pressure (ICP) monitoring has proved a useful and safe means of identifying those children with raised ICP who are at risk from its long-term sequelae and who would benefit from early surgical intervention. Overnight subdural ICP recordings have been obtained in 136 unoperated cases of craniosynostosis. Fifteen patients were studied both before and after cranial vault remodelling procedures. ICP was raised (> 15 mmHg) in 35%, borderline (10-15 mmHg) in 37% and normal (< 10 mmHg) in 27% of cases. Raised ICP was present in 28/53 of the syndromic craniofacial dysostosis cases and in 20/83 non-syndromic craniosynostosis cases investigated (P < 0.001). Raised mean ICP and periodic plateaux of sustained ICP during sleep were particularly associated with the syndromic cases. Of the 15 patients studied following cranial vault surgery, 9 showed a reduction in ICP, 3 were unchanged and 3 had higher ICP postoperatively. The results of ICP monitoring can contribute significantly to formulating a rational and staged surgical management plan incorporating the need to normalise ICP and correct the frequently severe functional and cosmetic consequences of these disorders.

Adolescent↗
PubMed1993

Silicon membrane interpositioning for the prevention of skull deformity following experimental craniosynostosis.

The interposition of various materials to complete suturectomy for the treatment of craniosynostosis has been used by many surgeons to prevent early postoperative reunion. Convincing scientific proof of the value of this procedure is still required, however. In this study a previously described model of experimental craniosynostosis was employed to examine the effects of an interposed silicon membrane in preventing skull deformity. Eighteen newborn rabbits had their right coronal sutures resected and the skulls were examined for shape and histology up to 6 months of age. The interposing of a silicon membrane was found to prevent formation of skull deformity during growth.

Animals↗
PubMed1993

Craniosynostosis as a risk factor.

Craniosynostosis is a little known organic factor in sociopathy. This factor should be among those taken into consideration in selecting patients to undergo craniotomy. Among 22,000 skulls of neuropsychiatric patients, there were 100 with premature coronal synostosis, compared with 57 with dolichocephaly. Thirty-seven of the 100 patients with coronal synostosis exhibited disorders of social adaptation; frontal cortex functions are assumed to be involved. There were 34 cases of mental deficiency, 21 cases of psychosis, 13 of cerebral vascular disease, 10 cases of epilepsy, 4 of acrocephalosyndactyly, 3 of decompensation by slight craniocerebral trauma, and 1 case of ependymoma of the IV ventricle. Dolichocephalic patients exhibited a stronger tendency towards depressive states and cerebral vascular disease. The risks of cosmetic impairment and resulting psychosocial problems are discussed; especially in girls with oxy- and scaphocephaly craniofacial correction, is indicated, as it is also in patients with Saethre-Chotzen syndrome. In cases of premature synostosis of the coronal suture or synostosis of several sutures for carrying out a craniotomy, it is advisable to employ a combination of orbito-frontosphenoidal osteotomy for extension of the anterior cranial fossa. Craniosynostosis is a risk factor which, depending on the individual case and the sex and age of the patient, can impair central nervous functions, social adaption, and the blood supply of the brain.

Adolescent↗
PubMed1992

Expanding cranioplasty for craniosynostosis and allied disorders.

For early correction of craniosynostosis in the newborn or in early infancy, strip craniectomy may produce satisfactory results. For late correction, however, more radical cranial reconstruction procedures are essential in order to achieve adequate remodeling of cranial deformities and normalization of intracranial pressure. Craniosynostosis presents various types of cranial deformity, and different procedures for its correction have been reported. Expanding cranioplasty is presented for the increase of cranial volume and immediate correction of the cranial deformity. This cranioplasty can be applied not only for late correction of various types of craniosynostosis but also for other cranial deformities.

Craniosynostoses↗
PubMed1992

The widened frontal subarachnoid space. A CT comparative study between macrocephalic, microcephalic, and normocephalic infants and children.

The computed tomographic scans of the heads of 67 infants and children with frontal subarachnoid space widening seen during a 5-year period were retrospectively studied. Only 22.3% of patients had macrocephaly. Comparison of the clinical and radiologic characteristics of subarachnoid widening in macrocephalic children and in normocephalic or microcephalic children showed no significant differences. It is concluded that undue emphasis has been laid on the association between this radiologic sign and macrocephaly. Widening of the subarachnoid space in children may be a variation of normal development of brain whereby there is a transient accumulation of cerebrospinal fluid in the frontal region. The term "external hydrocephalus" may therefore be inappropriate in the absence of significant ventricular widening and clinical signs of raised intracranial pressure.

Cephalometry↗