Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Dysostoses”

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 19 recordsLinked to original sources
PubMed2002

Common craniofacial anomalies: the facial dysostoses.

LEARNING OBJECTIVES: After studying this article, the participant should be able to: 1. Understand the etiology and pathogenesis of facial dysostosis syndromes. 2. Recognize and classify common facial dysostoses. 3. Understand the different management plans for the reconstruction of facial dysostoses. The wide spectrum of craniofacial malformations makes classification difficult. A simple classification system allows an overview of the current understanding of the etiology, assessment, and treatment of the most frequently encountered craniofacial anomalies. Facial dysostoses are reviewed on the basis of their diverse etiology, pathogenesis, anatomy, and treatment. Conditions discussed include craniofacial microsomia, Goldenhar syndrome, Treacher Collins syndrome, Nager syndrome, Binder syndrome, and Pierre Robin sequence. Approaches to the surgical management of these conditions are reviewed.

Child↗
PubMed1991

[Shwachman syndrome. Exocrine pancreatic insufficiency, growth retardation, peripheral dysostoses and neutropenia].

Since the second year of her life a now 32-year-old woman had growth retardation and recurrent diarrhoea, caused by exocrine pancreatic insufficiency. During intermittent treatment with pancreatic enzymes the diarrhoea ceased and she gained weight. In the course of the illness she had to undergo several orthopaedic operations. Radiological examinations had revealed metaphyseal dysostoses. At the age of 14 years the marked growth retardation stimulated further clinical investigation. The growth retardation, compensated exocrine pancreatic insufficiency and peripheral dysostoses established the diagnosis of Shwachman syndrome, although there was no neutropenia. The severe exocrine pancreatic insufficiency, confirmed by pancreatic function tests, was probably compensated by extrapancreatic lipases, and pancreatic enzyme substitution therefore was unnecessary.

Adult↗
PubMed1989

Acrofacial dysostoses.

A female baby was born with phocomelia, bilateral cleft lip and palate, marked micrognathia, malar hypoplasia, absence of lower eyelids, and absence of external ears. Radiological examination showed hypoplastic pectoral and pelvic girdles, short humeri and femora, with absence of forearms and legs, and oligodactyly of upper limbs. Her mother has triphalangism of the left thumb and a hypoplastic right thumb with stiff metacarpophalangeal joint. She also has downward-slanting palpebral fissures, malar hypoplasia, and deepset eyes. This observation offers an opportunity to revisit the acrofacial dysostoses syndromes, including Nager-Reynier syndrome, Genée-Wiedeman syndrome, and lethal forms.

Abnormalities, Multiple↗
PubMed1993

Acrofacial dysostoses: review and report of a previously undescribed condition: the autosomal or X-linked dominant Catania form of acrofacial dysostosis.

The acrofacial dysostoses (AFDs) are a heterogeneous group of disorders combining defects of craniofacial and limb development. The predominantly preaxial form is called Nager AFD, the predominantly postaxial form of AFD (POADS) is also known as the Genée-Wiedemann or Miller syndrome. The former appears to be about twice as common as the latter with well-documented autosomal dominant and recessive occurrences in both conditions. Only 1 AD occurrence of POADS is known, but 5 sets of sibs are suggestive of AR inheritance. Heterogeneity of apparently nonsyndromal AFD of both types is powerful support for the hypothesis that the AFDs are polytopic field defects arising during blastogenesis. Six other previously described forms of AFD include the AFD syndrome of Kelly et al. (AR), the Rodríguez or Madrid form of AFD (AR or XLR), the Reynolds or Idaho form of AFD (AD), the Arens or Tel Aviv type of AFD (AF?), the presumed AR AFD syndrome of Richieri-Costa et al., and the AD Patterson-Stevenson-Fontaine syndrome. Here we review the AFDs and report on a previously apparently undescribed autosomal or X-linked dominant form of AFD with mental retardation in a Sicilian mother and her 4 sons.

Adolescent↗
PubMed1995

Acrofacial dysostosis of unknown type: nosology of the acrofacial dysostoses.

We describe a stillborn girl with an unclassified form of mandibulofacial dysostosis, a postaxial defect of the right, and a preaxial defect of the left hand. The Nager syndrome is characterized by preaxial limb defects, whereas the Genée-Wiedemann syndrome (= Miller syndrome) by postaxial limb defects. We briefly review the established acrofacial dysostoses (AFD) and discuss the position of our case in the current classification.

Abnormalities, Multiple↗
PubMed1985

François' syndrome. An intermediate between mandibulofacial and craniofacial dysostoses.

Because of the presence of microphthalmos and cataract and the absence of auricular deformations the François syndrome belongs to neither the craniofacial nor the mandibulofacial dysostoses. TeleXray measurements revealed forward dislocation of the mandibular joint. A proposal to speak of basocraniofacial dysostosis in the cases of Hallermann-Streiff-François is made.

Cataract↗
PubMed1982

Surgical anatomy of the craniofacial dysostoses: insights from CT scans.

Six patients with midface retrusion secondary to craniofacial dysostoses were evaluated by computer assisted tomography (CT) before and after surgery. Computer reformated life-size images were generated for linear measurements and for assessing the encroachment upon the orbit of the anterior and middle cranial fossae, the lateral displacement of the ethmoids, and the retrusion of the maxilla. Dynamic ocular CT demonstrated alterations in the angle of divergence of the optic nerve with globe movement which made measurements of that angle an unreliable assessment of hypertelorism. Surgical separation of the midface from the base of the skull was shown to be a fracture within the palatine bones between its horizontal and pyramidal processes. The integrity of the antral walls was preserved in all patients, in contrast to the comminution seen with traumatic LeFort III fractures. CT evaluation of patients with midface retrusion has further defined the nature of their anomalies, facilitated operative planning, demonstrated the osteotomies in vivo and reduced radiation exposure.

Adolescent↗
PubMed1985

[Dysostoses and postural limb abnormalities in rapidly growing dogs].

Congenital and acquired dysostosis was studied on two litters of Great Danes. One litter of puppies were descendants of dogs with normal hips, the other of dysplastic animals. Both litters were fed according to NCR standards, the second however ad libitum. One puppy of parents with normal hips demonstrated already with 6 weeks epi- and metaphyseal dysostosis and severe angular deformities of the thoracic and pelvic limbs. Hip dysplasia was diagnosed in three of five puppies from dysplastic dogs. In addition, one puppy showed Wobbler symptoms. The extent and frequency of the alterations were, in comparison to earlier investigations, unexpectedly high. It can be assumed that the examined dogs were genetically predisposed for dysostosis. Our therapeutic procedures are presented.

Animals↗
PubMed1986

A Bayesian method for the estimation of penetrance: application to mandibulofacial and frontonasal dysostoses.

We describe a Bayesian method of estimating penetrance from genealogical data. It consists of calculating the likelihood of the data alone to make inferences about penetrance without sample space considerations. The method is applied to mandibulofacial dysostosis giving a penetrance of 0.908 with 0.95 credible interval of [0.809; 0.972] and to frontonasal dysostosis giving a penetrance of 0.670 with 0.95 credible interval of [0.457; 0.851].

Craniofacial Dysostosis↗
PubMed1996

Treatment of obstructive sleep apnoea using nasal CPAP in children with craniofacial dysostoses.

We studied a group of children (aged 2.2-15 years) with craniofacial dysostosis and obstructive sleep apnoea to assess the use of nasal continuous positive airway pressure (n-CPAP) as a palliative form of treatment. A variable period of time was allowed for acclimatisation to n-CPAP (1 day to 2 months), depending on the patient. Patients were then admitted for their first CPAP trial. Baseline breathing difficulty and the effectiveness of n-CPAP were assessed by respiratory sleep studies. Successful results were obtained with n-CPAP in five of the eight patients, with marked clinical and polygraphic improvements of the respiratory pattern immediately after n-CPAP was established. Of the remaining three cases, one child needed a prolonged period of acclimatisation to the n-CPAP system, one was withdrawn from the study, and one failed to respond to n-CPAP and was found to have complete blockage of the upper airways as a result of enlarged adenoids. Our results confirm that n-CPAP can be tolerated even by young patients and can be effective, and that it may be a useful alternative palliative treatment for obstructive sleep apnoea in children with craniofacial syndromes.

Adolescent↗
PubMed1987

The craniofacial dysostoses: guidelines for management of the symmetric and asymmetric deformities.

Although great diversity marks the craniosynostoses, our experience related to that from other centers allows us to draw certain conclusions for their management. For the asymmetric synostoses, operative intervention should be carried out in infancy or early childhood. Although the unilateral approach is our preferred method, the bilateral approach can yield equally satisfactory results. Surgeons should, therefore, familiarize themselves with both methods and individualize for the given deformity. Mild symmetric (upper face) synostoses are best managed in infancy or early childhood, utilizing bilateral orbital advancement with the expectation that the need for additional major surgery will be at worst 50 per cent and likely significantly less. For moderate to severe synostoses, delaying major intervention to later childhood or adolescence maximizes the chance of obtaining a satisfactory result by a single procedure, either an extended LeFort III or monoblock advancement. Individualization of each case is essential, and the need for brain and eye protection or the psychologic needs of the patient may dictate a modification of the treatment guidelines. Patients and parents must be aware that growth and development subsequent to surgery is not entirely predictable, and there may be a need for a second major intervention at a subsequent time, despite these established guidelines.

Acrocephalosyndactylia↗