Hemifacial Microsomia

David, David J.; Mahatumarat, Charan; Cooter, Rodney D.

doi:10.1097/00006534-198710000-00008

Cited by 131 publications

(27 citation statements)

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“…The SAT classification was originally proposed by David in 1987 (David et al, 1987). Skeletal categories, auricle categories, and tissue (soft) categories are described separately (Table 4).…”

Section: The Classification Of Hfmmentioning

confidence: 99%

The etiology, clinical features, and treatment options of hemifacial microsomia

et al. 2023

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The second most frequent craniomaxillofacial congenital deformity is hemifacial microsomia (HFM). Patients often accompany short mandible, ear dysplasia, facial nerve, and soft tissue dysplasia. The etiology of HFM is not fully understood. To organize the possible up‐to‐date information on the etiology, craniofacial phenotypes, and therapeutic alternatives in order to fully comprehend the HFM. Reviewing the potential causes, exploring the clinical features of HFM and summarizing the available treatment options. Vascular malformation, Meckel's cartilage abnormalities, and cranial neural crest cells (CNCCs) abnormalities are three potential etiology hypotheses. The commonly used clinical classification for HFM is OMENS, OMENS‐plus, and SAT. Other craniofacial anomalies, like dental defects, and zygomatic deformities, are still not precisely documented in the classification. Patients with moderate phenotypes may not need any treatment from infancy through adulthood. However, patients with severe HFM require to undergo multiple surgeries to address facial asymmetries, such as mandibular distraction osteogenesis (MDO), autologous costochondral rib graft (CCG), orthodontic and orthognathic treatment, and facial soft tissue reconstruction. It is anticipated that etiology research will examine the pathogenic mechanism of HFM. A precise treatment for HFM may be possible with thoroughly documented phenotypes and a pathogenic diagnosis.

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Section: The Classification Of Hfmmentioning

confidence: 99%

The etiology, clinical features, and treatment options of hemifacial microsomia

et al. 2023

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“…With regard to differential diagnostics, CFM includes similar symptoms as, for example, CHARGE, Townes‐Brocks and Treacher‐Collins syndromes. 1 , 2 , 3 , 8 , 9 , 10 , 11 At the end of 2020, a Working Group of Craniofacial Microsomia published a consensus article focusing on uniform criteria for CFM in Europe. 12 …”

Section: Introductionmentioning

confidence: 99%

Craniofacial microsomia – more than a structural malformation

Kuu‐Karkku

Suominen

Svedström-Oristo

2022

Orthod Craniofacial Res

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Craniofacial microsomia (CFM) is the second most common congenital facial deformity after cleft lip and cleft palate. It is a developmental disorder in structures originating from the first and second pharyngeal arches during the 4th and 6th weeks of pregnancy. Its distinctive features are underdevelopment of the mandible and/or maxilla, ear, orbit, facial soft tissue and facial nerve. CFM occurs most often on the right side of the face. In approximately 10% of cases, the disorder occurs bilaterally. Depending on the severity, CFM can cause problems in nutrition intake, breathing, hearing and facial muscle function. Furthermore, it can be related to epibulbar dermoids, vertebral malformations, cardiovascular malformations and malformations in lungs, brain and genitourinary system. 1-5 Fan

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“…Classification systems such as Pruzansky [10], SAT [11], OMENS [12], and OMENS+ [13] can facilitate standardized coding of specific features by one or more rater. Some studies have used such systems on images of individuals with CFM obtained using 2- and 3-dimensional imaging [14–16].…”

Section: Introductionmentioning

confidence: 99%

Reliable classification of facial phenotypic variation in craniofacial microsomia: a comparison of physical exam and photographs

et al. 2016

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BackgroundCraniofacial microsomia is a common congenital condition for which children receive longitudinal, multidisciplinary team care. However, little is known about the etiology of craniofacial microsomia and few outcome studies have been published. In order to facilitate large, multicenter studies in craniofacial microsomia, we assessed the reliability of phenotypic classification based on photographs by comparison with direct physical examination.MethodsThirty-nine children with craniofacial microsomia underwent a physical examination and photographs according to a standardized protocol. Three clinicians completed ratings during the physical examination and, at least a month later, using respective photographs for each participant. We used descriptive statistics for participant characteristics and intraclass correlation coefficients (ICCs) to assess reliability.ResultsThe agreement between ratings on photographs and physical exam was greater than 80 % for all 15 categories included in the analysis. The ICC estimates were higher than 0.6 for most features. Features with the highest ICC included: presence of epibulbar dermoids, ear abnormalities, and colobomas (ICC 0.85, 0.81, and 0.80, respectively). Orbital size, presence of pits, tongue abnormalities, and strabismus had the lowest ICC, values (0.17 or less). There was not a strong tendency for either type of rating, physical exam or photograph, to be more likely to designate a feature as abnormal. The agreement between photographs and physical exam regarding the presence of a prior surgery was greater than 90 % for most features.ConclusionsOur results suggest that categorization of facial phenotype in children with CFM based on photographs is reliable relative to physical examination for most facial features.

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Hemifacial Microsomia

Cited by 131 publications

References 0 publications

The etiology, clinical features, and treatment options of hemifacial microsomia

The etiology, clinical features, and treatment options of hemifacial microsomia

Craniofacial microsomia – more than a structural malformation

Reliable classification of facial phenotypic variation in craniofacial microsomia: a comparison of physical exam and photographs

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