Disease relevance of HFM

• Hemifacial microsomia (HFM) is a common birth defect involving first and second branchial arch derivatives [1].
• The 181 meningiomas studied included 173 classic (41 meningotheliomatous, 27 fibroblastic, 82 transitional, nine psammomatous, eight angiomatous and six hemangioblastic tumors) and eight malignant meningiomas (three hemangiopericytomas and five tumors that we labeled HFM, that is, tumors exhibiting evidence of histological features of malignancy) [2].
• Hemifacial microsomia (HFM), a developmental abnormality involving the first and second branchial arches, is one of the most common craniofacial abnormalities [3].
• The hypothesis was tested using data from 25 patients with mandibulofacial dysostosis (MFD) and 40 patients with hemifacial microsomia (HFM) [4].
• Heart defects rose from 22% to 40% with the increasing VAA in individual HFM patients but were less in VATER (29%) and sirenomelia (21%) patients and were attributed to complex, conotruncal, and other early embryonic anomalies [5].

Psychiatry related information on HFM

• Severe micrognathia and soft tissue deficiency, macrostomia, and mental retardation were significant risk factors for developing VPI in HFM [6].
• RESULTS: Children with HFM had significantly higher CBCL and TRF total behavior problem scores and lower SEI general self-esteem scores than their unimpaired twins [7].
• Lack of patient compliance may be the primary cause of the variable results obtained with functional appliances in hemifacial microsomia cases as reported in the literature [8].

High impact information on HFM

• This locus harbours the Goosecoid gene, an excellent candidate for HFM based on mouse expression and phenotype data [1].
• A genome wide search for linkage in two families with features of HFM was performed to identify the disease loci [1].
• These findings suggest that the dental lamina in hemifacial microsomia is affected, and support the hypothesis that its pathogenesis involves an abnormality of the neural crest [3].
• Comparison of overall dimensions revealed that all primary and permanent molars in hemifacial microsomia were significantly smaller in the mesiodistal dimensions compared with control teeth [3].
• Morphometric analysis of the primary and permanent dentitions in hemifacial microsomia: a controlled study [3].

Chemical compound and disease context of HFM

• BACKGROUND: The postprandial triglyceride response following a meal high in fat (HFM) has been related to atherogenesis and insulin resistance [9].
• Cranial nerve palsy/paresis was only seen in HFM and thalidomide-induced malformations [10].
• These patients were examined to determine whether the frontal flattening was either secondary to deformation, the result of unilateral coronal synostosis, or part of the spectrum of hemifacial microsomia [11].
• Experimental production of hemifacial microsomia by a folic acid antagonist, triaxene, is mediated via hemorrhage in the fetus [12].
• Fetal exposure to primidone was associated with Goldenhar syndrome, hemifacial microsomia, tetralogy of Fallot, aqueductal stenosis, and anterior encephalocele in this male infant [12].

Biological context of HFM

• These results suggest that the Hfm locus is necessary for prenatal development and that this strain is a useful animal model for investigating the genetic predisposition to HFM in humans [13].
• More recently, it has been suggested that an interference in chondrogenesis is primarily responsible for the HFM phenotype [14].
• Similarly, tetracycline caused a significant increase (P < 0.05) in the AUC and C(max) of HFM [15].
• HFM is a newer method within the range of ambulatory urodynamic tests [16].
• A more recent model based on a transgenic mutation of a locus termed Hfm (B1 to B3 on chromosome 10) appears to provide an insight into HFM causation [17].

Anatomical context of HFM

• We conclude that although the mandible, zygomatic arch, and middle ear ossicles appear to form a "developmental field," the association between structures varies for HFM and MFD [4].
• Analyzed in separate heart and blood vessel (BV) categories, occurrences of BV defects in HFM patients with 0-1 VAA were low (4-6%) and due to anomalies other than single umbilical arteries (SUA) [5].
• OBJECTIVE: To determine the frequency of auditory and facial nerve dysfunction and its relationship to more severe forms of bilateral HFM [18].
• BACKGROUND: Hemifacial microsomia (HFM) is a common craniofacial disorder characterized by a wide spectrum of anomalies, including conductive hearing loss due to external and middle ear deformities [18].
• Because of the abnormal temporomandibular joint anatomy in HFM patients, the proximal segment may not seat in the glenoid fossa and thus may be displaced with distraction [19].

Associations of HFM with chemical compounds

• We examined the influence of dietary carbohydrate and the accompanying insulin secretory response on the postprandial triglyceride response following a HFM [9].
• Blood samples collected at predetermined intervals were analyzed for halofantrine and its major metabolite, desbutylhalofantrine (HFM), using a validated HPLC method [15].
• The clinical features of 29 patients with MFD, 26 with HFM and seven with thalidomide-induced malformations were investigated [10].
• He is a member of the American Association of Integrated Delivery Systems, Glen Allen, Virginia, and the Provider Excess Loss Association, Princeton, New Jersey. Crispin recently talked with HFM about risk-based capital requirements for health plans and the Impact these solvency guidelines could have on healthcare providers [20].
• Simultaneous mandibular and maxillary distraction in hemifacial microsomia in adults: avoiding occlusal disasters [21].

Physical interactions of HFM

• Oculo-auriculo-vertebral (OAV) spectrum or Goldenhar syndrome is a complex and heterogeneous condition characterized by hemifacial microsomia (unilateral ear abnormalities and ipsilateral mandibular hypoplasia) as well as vertebral anomalies and epibulbar dermoids or lipodermoids [22].

Regulatory relationships of HFM

• Using classical complementation (cell fusion) studies, we analyzed if possible differences in the genetic background between HFM and cells from individuals with fragile X syndrome (FX cells) could have an influence on the methylation status of the FMR1 promoter [23].

Other interactions of HFM

• Rare cases of clinically normal males (HFM) have been identified with an expanded CGG repeat; however, here, the FMR1 promoter is not methylated [23].
• CONCLUSIONS: Sensorineural hearing loss and facial nerve dysfunction are common in HFM [18].
• RESULTS: Hypodontia was more common among HFM patients (26.9%) versus the comparison group in which no missing teeth were recorded (p < .0001) [24].
• Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: review of eight patients and further evidence of a "hot spot" for mutation in the SALL1 gene [25].
• A family with features overlapping Okihiro syndrome, hemifacial microsomia and isolated Duane anomaly caused by a novel SALL4 mutation [26].

Analytical, diagnostic and therapeutic context of HFM

• Ambulatory urodynamics have evolved into practical investigations like EAC, HFM, and EAC combined with renal pelvimetry [16].
• However, the use of distraction osteogenesis in HFM patients with severe grade III mandibular deformities has not been previously addressed [27].
• We undertook a retrospective study of patients with HFM to document the prevalence of facial clefting [28].
• We present a case of HFM type I of mild deformity treated with onlay bone grafting [29].
• We collected data in a case-control study to identify whether vasoactive exposures or vascular events during early pregnancy affect the risk of HFM [30].

References