Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “MANDIBULOFACIAL DYSOSTOSIS”

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.

1,325 records · Page 74Linked to original sources
PubMed1977

The embryological basis of craniofacial dysplasias.

Craniofacial dysplasia of a syndromic pattern can usually be classified into one of two easily identifiable groups. In the first group are those malformations of the craniofacial skeleton and soft tissues that are asymmetrical in form and in the other, those that are principally symmetrical. Clinical studies have demonstrated that affected subjects in the symmetrical group frequently improve in terms of facial appearance as growth and development proceed to maturity, while those with asymmetrical defects often deteriorate in this respect. Embryological studies on animal models of these malformations have shown that asymmetrical lateral facial dysplasia and symmetrical mandibulofacial dysplasia exhibit discrete and widely disparate causal mechanisms of malformation. Analysis of these mechanisms and their effects on subsequent growth and development has suggested significant variations in the timing and technique of reconstructive procedures which will enable the surgeon to produce the most effective results when used for the rehabilitation of the afflicted.

Animals↗
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↗
PubMed1975

Structural goals in craniofacial surgery.

Major craniofacial abnormalities can be considered as a group for purposes of operative planning. Known normal relations define what is abnormal and indicate goals to be achieved with the craniofacial operative procedures. The principle syndromes with significant facial structural changes amenable to such surgical corrective procedures are craniofacial stenoses, hypertelorism, mandibulofacial dysostoses, median facial clefts, residua of encephaloceles, and trauma. Deformities primarily involve the middle and upper thirds of the face. In planning, abnormal relations and structures must be clearly defined utilizing patient examination, x-rays, dental study models, and photography. Standards of norm indicating goals for the corrective procedure are also based on studies using these tools, data from previous publications, and measurements directly from skulls. Precise measurements about the orbits and maxillary-mandibular relation are the keystone for planning. Soft tissue, nose, and ear alterations are based on already widely known concepts of norm and symmetry. Bony interocular distance, medial intercanthal distance, height and width at the orbital rim of the bony orbits, orbital shape, orbital axis, and orbital volume as determined by measurement with an exophthalmometer are useful in determining what is to be done about the orbits. Cribiform plate level, anterior cranial base, length and contour, and size of the zygomatic arches are important dimension considerations. Paranasal sinus size and location is important. These considerations are essential prior to any major facial structural changes.

Adult↗
PubMed1998

Airway management in children with major craniofacial anomalies.

OBJECTIVES: Delineation of clinical characteristics affecting the airway in a cohort of craniofacially deformed children. What factors differ between patients requiring and those not requiring surgical airway intervention? What factors predispose to the need for tracheotomy? When can decannulation be expected if tracheotomy is required? What interventions aid decannulation? STUDY DESIGN: Five-year retrospective chart review at tertiary center. METHODS: Two hundred fifty-one patients met the following entry criteria: enrollment in the New York University Institute of Reconstructive and Plastic Surgery's Craniofacial Clinic and admission to Tisch Hospital in Manhattan for surgery from 1990 to 1994. Hospital, clinic, and departmental office records were reviewed. All patients had major craniofacial bony anomalies and underwent administration of general anesthesia at least once. RESULTS: Nearly 20% of all children required tracheotomy (47/251). Craniofacial synostosis patients (Crouzon, Pfeiffer, or Apert syndrome) had the highest rate of tracheotomy (48% [28/59]). Mandibulofacial dysostoses patients (Treacher Collins or Nager syndrome) had the next highest rate (41% [28/59]). Patients with oculo-auriculo-vertebral sequence were less likely to undergo tracheotomy (22% [9/41]). Children with craniosynostosis rarely required a surgical airway, unless there was marked associated facial dysmorphism (1% [1/72]). The duration of cannulation was related to the age at tracheotomy in a bimodal distribution. Generally, tracheotomies required before age 4 years remained for several years, whereas those placed after age 4 were removed after several weeks. The presence of a cleft palate correlated with reduced risk for tracheotomy, but the presence of a ventriculoperitoneal shunt correlated with an increased risk for tracheotomy. Procedures selectively used to improve the airway included midface advancement, mandibular expansion, tonsillectomy and adenoidectomy, uvulopalatopharyngoplasty, anterior tongue reduction, and endoscopic tracheal granuloma excision. CONCLUSIONS: The likelihood for surgical airway management is related to specific craniofacial diagnosis. The length of tracheal cannulation is greatest for infants and young children who manifest severe airway compromise, often because of nasal obstruction in combination with other anatomic factors. Early tracheotomy is advocated for these patients to promote optimal growth and development. Choanal atresia is often misdiagnosed in these infants; nasal obstruction is actually secondary to midface retrusion. Staged surgical interventions can allow eventual successful decannulation in nearly all cases of craniofacial syndromes.

Adolescent↗
PubMed2005

Acrofacial dysostosis (AFD) with preaxial limb hypoplasia (Nager AFD) and club foot diagnosed in a fetus from 1812 in the anatomical collections at the University of Halle, Germany.

The Anatomical Collections of the Department of Anatomy and Cell Biology at the University of Halle, Germany, comprise more than 8,000 specimens, about 600 of them congenital anomalies. The collection of abnormal human and animal specimens began with the private collections of Johann Friedrich Meckel the Elder (1724-1774), his son Philipp Friedrich Theodor Meckel (1755-1803), and his grandson Johann Friedrich Meckel the Younger (1781-1833). Meckel the Younger founded the science of developmental pathology in Germany. Radiographical techniques, computer tomographic methods (CT), magnetic resonance imaging (MRI), and molecular cytogenetic techniques, for example, comparative genomic hybridization (CGH) were used to diagnose abnormal human fetuses in the Meckel Collection. On examination of one of the human fetuses, originally described by JF Meckel the Younger in 1812 or earlier, we found striking clinical manifestations including mandibulofacial defects and preaxially malformed limbs. With respect to external findings, we propose that the condition is acrofacial dysostosis (AFD) with preaxial limb hypoplasia (Nager AFD) in combination with club foot, tibial torsion, and single umbilical artery. We used genetic analyses to test whether the observed limb malformations could be caused by aneuploidy. CGH-ratio profiles of all chromosomes were apparently normal. It is likely that Meckel's specimen is the earliest known fetus with Nager AFD.

Abnormalities, Multiple↗
PubMed1975

Mandibulofacial defects in lambs from two flocks.

Mandibulofacial defects occurring in two flocks during an autumn lambing season are described. The defects were micrognathia with microtia, brachycephalus, perocephaly, bilateral oro-auricular cleft, and aprosopia. As only early lambing ewes were involved, teratogenic plant(s) were suspected as the cause.

Abnormalities, Multiple↗