Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “ACROCEPHALOSYNDACTYLIA”

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
PubMedDate not supplied

The feet in Apert's syndrome.

Apert's syndrome (acrocephalosyndactyly type 1) is characterised by anomalies of the cranium, hands, and feet. The cranial and hand anomalies have been investigated, and the management of these is well established. In contrast, the anomalies affecting the feet and their management has previously received little attention. Forty-three children with Apert's syndrome underwent investigation of the anomalies affecting their feet. This consisted of history, clinical examination, and where possible, radiographic examination to establish the anomalies present, how these altered during development, and their clinical significance. The conclusion of the study is that there are widespread anomalies of the feet, with defects including both predictable dysmorphic changes and progressive fusions of the skeletal components during skeletal maturity. These fusions and their effect on growth combine to produce increasing deformity during childhood. The clinical significance of the anomalies is that walking is often delayed, and the increasing deformity results in difficulty obtaining footwear. This is the most common reason for surgery to the feet being undertaken during childhood to improve the shape of the feet to facilitate the provision of footwear. The unexpectedly high incidence of surgery in this study suggests that the management of foot deformities may require surgery more frequently than current literature would suggest.

Acrocephalosyndactylia↗
PubMed1976

An operation for syndactyly, and its results.

We describe our method of operation for syndactyly repair and our results in 62 patients (74 hands, 143 commissures), all treated more than two years ago. The operation was performed on patients aged from 17 months to two years (except those with acrosyndactyly). Postoperative web formation was not seen in any of these patients.

Acrocephalosyndactylia↗
PubMed1977

The pathogenesis of premature craniosynostosis in acrocephalosyndactyly (Apert's syndrome). A reconsideration.

A detailed examination of a stillborn fetus with Apert's syndrome showed several unexpected findings, which prompted a reevaluation of the heretofore generally accepted hypotheses regarding the cause of the dysmorphic craniofacial features in this syndrome. (1) The characteristic clinical features of Apert's syndrome were present at 24 to 26 weeks of gestation, and presumably much earlier. (2) However, there was no evidence, clinical or histological, of premature fusion of any of the cranial sutures or basilar synchondroses in this fetus. From our observations, and from a critical review of the literature, we conclude that the characteristic craniofacial malformations of Apert's syndrome are not caused by premature fusion of the cranial sutures, as has been commonly postulated. Rather, a malformation of the skull base is the most likely primary morphological event, and it leads to the characteristic dysmorphic facies, then secondarily to premature craniosynostosis. We believe the nature of the malformation is related to an abnormality in the bones which comprise the cranial base base (e.g. the sphenoid, ethmoid, and occipital bones) and to abnormal spatial relationships between the cribriform plate and the crista galli, resulting in a positional disarrangement of the points of basal attachment of the dura matter. The latter, then, precludes the normal response of the neurocranium to the forces produced by the growing brain. The synostosis is viewed as a symptom, rather than as a cause, of the dysmorphic craniofacial features typical of Apert's syndrome.

Acrocephalosyndactylia↗
PubMed1983

Frontofacial advancement with bony separation in craniofacial dysostosis.

A new technique in craniofacial surgery to separate the cranial and nasal cavities from each other is described. This can be achieved by preserving the complete anterior cranial fossa while simultaneously correcting the forehead, orbit, and face in craniofacial dysostosis. With this procedure, the risk of infection deriving from nasal sinuses and cavities should be minimized.

Acrocephalosyndactylia↗
PubMed1984

Early surgery for craniofacial synostosis: an 8-year experience.

A prospective review is presented of 50 patients with one of the craniofacial synostosis syndromes who underwent early interventive craniofacial surgical correction (average age 7.6 months at time of surgery). The study has demonstrated the efficacy and safety of the techniques when employed in the infant. Satisfactory cranio-orbital form was achieved in the majority of the patients, although 10 patients required secondary surgery because of sutural refusion or the development of turricephaly or calvarial contour irregularities. Despite earlier hopes, this surgery did not result in the development of satisfactory occlusal relationships and midfacial form in the craniofacial dysostosis group (Crouzon's, Apert's, etc.). Based on this clinical experience, a surgical treatment plan is presented for the newborn with craniofacial synostosis.

Acrocephalosyndactylia↗
PubMed1986

Airway obstruction and sleep apnea in children with craniofacial anomalies.

Children with severe craniofacial anomalies and breathing problems are rare, and the accumulated experience of their treatment is limited. LeFort III midface advancements have been tried by many craniofacial teams, but no consensus has yet been reached as to the effectiveness of this procedure. In this report of seven patients with craniofacial malformations and severe breathing problems, three had a LeFort II midface advancement, one had release of bilateral temporomandibular joint ankylosis, and two had tonsillectomies. Two patients without a tracheostomy suffocated, four had a long-term tracheostomy, and one was cured by a unilateral tonsillectomy. It was concluded that LeFort III midface advancement is ineffective in these types of cases without a very stable postoperative retention, and it was suggested that all patients with severe craniofacial anomalies and breathing problems, regardless of their planned subsequent treatment, should have a tracheostomy as an initial measure.

Acrocephalosyndactylia↗
PubMed1986

Early surgical intervention in Apert's syndactyly.

The hand deformities in Apert's syndrome are among the most complex congenital hand problems to reconstruct due to the skeletal malalignment, symphalangism, and progressive functional deficits with growth. Ten children with Apert's syndactyly underwent early surgical intervention (mean age 8.4 months) as part of a staged program of digital separation leading to completion of both hands by the age of 2 years. The incidence of major complications was low, rate of revision (18 percent) acceptable, and the aesthetic result very satisfactory. Long-term functional results tend to reflect the effect of progressive intrinsic disease despite preservation of skeletal alignment and digital form with growth. However, the aesthetic improvement and potential for greater functional gains at a young age support the concept of early surgical intervention in this syndrome.

Acrocephalosyndactylia↗
PubMed1990

Obstructive sleep apnea in Apert's and Pfeiffer's syndromes: more than a craniofacial abnormality.

Nine acrocephalosyndactyly type I patients (Apert's syndrome) and three acrocephalosyndactyly type V patients (Pfeiffer's syndrome) were evaluated for the relative importance of upper and lower airway abnormalities in the generation of obstructive sleep apnea. All patients were found to have a combination of upper and lower abnormalities. The influence of lower pathology was greater in the infants, and the influence of upper airway, specifically pharyngeal, was greater in the adults. A comparison between preoperative and postoperative polysomnography revealed little improvement with standard craniofacial advancements. Furthermore, three patients are described who succumbed to pulmonary death despite tracheostomy. Conservative treatment with prone or lateral positioning and medical pulmonary regimens is advocated. Finally, the pathogenesis of this diffuse airway pathology is discussed.

Acrocephalosyndactylia↗
PubMed1995

A study of intracranial volume in Apert syndrome.

The present study was undertaken to characterize the intracranial volume in patients with Apert syndrome. Radiographic and CT-based techniques for measuring intracranial volume were found to show close correlation when validated in dry normal adult skulls. A standard-deviation score of intracranial volume, determined from CT scans in 20 patients with Apert syndrome from birth to 30 years of age, was calculated with reference to a normative database of age- and sex-matched controls. Analysis of the data showed no significant difference in standard-deviation score between Apert patients with or without ventriculomegaly, before or after cranial vault surgery, or between male and female patients. The mean standard-deviation score among all Apert CT scans compared with normative data was 3.1, which was highly significant (p < 0.001). However, the growth curves showed no significant difference in intracranial volume between Apert and normal patients below 3.5 months of age. In summary, intracranial volume in Apert syndrome is within normal range at birth but increases to greater than 3 standard deviations above normal after 3.5 months of age, a finding independent of cranial vault surgery.

Acrocephalosyndactylia↗
PubMed1996

Morbidity associated with increased intracranial pressure in Apert and Pfeiffer syndromes: the need for long-term evaluation.

Although the incidence of elevated intracranial pressure is increased in patients with the craniosynostosis syndromes, the significance of these findings and their impact on clinical practice remain unclear. The morbidity related to elevated intracranial pressure in patients with Apert and Pfeiffer syndromes was reviewed. Sixty-seven patients with Apert syndrome and 39 patients with Pfeiffer syndrome were identified. The morbidity in 5 of the 106 patients (4.7 percent) was felt to be directly related to persistently elevated intracranial pressure. These included 2 deaths, 1 due to brainstem herniation after an elective subcranial Le Fort III advancement and 1 following removal of a lumboperitoneal shunt during the surgical release of syndactyly. The remaining 3 complications included bilateral papilledema detected 3.5 years after cranial vault remodeling in 1 patient and venous hypertension with excessive bleeding detected during elevation of the bicoronal flap in 2 patients, resulting in delay of a planned Le Fort III advancement. Patients with the syndromal craniosynostoses are at risk for complications resulting from elevated intracranial pressure from infancy through adulthood despite surgical attempts to increase cranial capacity in infancy. Clinical guidelines are proposed by which these patients should be evaluated beyond infancy in a regular fashion so as to reduce morbidity from unrecognized elevations in intracranial pressure.

Acrocephalosyndactylia↗
PubMed1996

Dynamic cranioplasty for brachycephaly.

In craniofacial surgery, the most common techniques for treatment of brachycephaly have been either to let the forehead float on the brain or to fix it in an advanced position. Since neither of these techniques renders acceptable results with enough consistency, we have developed a different way of addressing the problem. In principle, the design of the operation is to restrict upward and transverse growth of the cranium but to allow anterior and posterior expansion. This is accomplished by producing transverse tension across the skull and letting it expand anteriorly by means of a superiorly hinged fronto-orbital flap and posteriorly by an inferiorly based occipital flap. To prevent upward expansion at the squamosal sutures when still open, these junctions are bridged with miniplates. This surgical technique has brought definite improvement to the results even in some Apert syndrome children. During a 2-year period, we have treated 14 infants with this technique and followed 10 of them with roentgencephalometry, 3 for more than 1 year, and 4 for more than 6 months. The diagnoses were the following: nonsyndromal bicoronal synostosis (4), Apert (7), bicoronal synostosis with midline cleft, Saethre-Chotzen, and Antley-Bixler (1 each). The mean age of surgery was 6.6 months (range 3 to 16 months). There were no major complications.

Acrocephalosyndactylia↗
PubMed1996

The role of bone centers in the pathogenesis of craniosynostosis: an embryologic approach using CT measurements in isolated craniosynostosis and Apert and Crouzon syndromes.

This paper describes the role of the displacement of bone centers, i.e., the tubers, in the pathogenesis of craniosynostosis. This displacement was studied in 54 patients with isolated or syndromic craniosynostosis in the form of CT scans as well as in two dry neonate skulls with Apert syndrome. For comparison, 49 fetal and 8 normal infant dry skulls were studied. Our investigation was restricted to the coronal and metopic sutures. The results showed a significantly more occipital localization of the frontal bone center and a more frontal localization of the parietal bone center at the side of a synostotic coronal suture in the isolated form as well as in Apert syndrome. In contrast, this was not the case in Crouzon syndrome, thus showing that these two syndromes have a different pathogenesis. For trigonocephaly, a more anteromedial localization of the frontal bone centers was found.

Acrocephalosyndactylia↗