Hemifacial microsomia and variants: Pedigree data

Rollnick, Beverly R.; Kaye, Celia I.; Opitz, John M.

doi:10.1002/ajmg.1320150207

Cited by 157 publications

(95 citation statements)

References 17 publications

(1 reference statement)

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“…About 45% of patients have affected relatives, and 5%-10% have affected siblings. 12 The phenotype is highly variable. There may be cardiac, vertebral, and central nervous system defects, in addition to craniofacial anomalies.…”

Section: Hfm: Omim 164210mentioning

confidence: 99%

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Syndromes of the First and Second Branchial Arches, Part 2: Syndromes

Johnson¹,

Moonis²,

Green³

et al. 2010

AJNR Am J Neuroradiol

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SUMMARY:A variety of congenital syndromes affecting the face occur due to defects involving the first and second BAs. Radiographic evaluation of craniofacial deformities is necessary to define aberrant anatomy, plan surgical procedures, and evaluate the effects of craniofacial growth and surgical reconstructions. High-resolution CT has proved vital in determining the nature and extent of these syndromes. The radiologic evaluation of syndromes of the first and second BA should begin first by studying a series of isolated defects (cleft lip with or without CP, micrognathia, and EAC atresia) that compose the major features of these syndromes and allow a more specific diagnosis. After discussion of these defects and the associated embryology, we discuss PRS, HFM, ACS, TCS, Stickler syndrome, and VCFS.

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Section: Hfm: Omim 164210mentioning

confidence: 99%

“…13 The combination of OAV features and microtia is termed the "OAV complex." 12 When the features of the OAV complex are predominantly unilateral and lack vertebral anomalies and epibulbar dermoids, the condition has been called HFM. This pattern is thought to represent a variant of the expanded OAV complex.…”

Section: Hfm: Omim 164210mentioning

confidence: 99%

Syndromes of the First and Second Branchial Arches, Part 2: Syndromes

Johnson¹,

Moonis²,

Green³

et al. 2010

AJNR Am J Neuroradiol

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“…22; Table) frequently associated with cono-truncal cardiovascular and vertebral abnormalities. It is considered to be at least partly genetic (e.g., Rollnick and Kaye, 1983), and while there are no clearly identified environmental contributions, there is one case associated with a massive retinol overdose (Schardein, 1993). The craniofacial (Fig.…”

Section: (E) Hemifacial Microsomiamentioning

confidence: 99%

Prenatal Craniofacial Development: New Insights On Normal and Abnormal Mechanisms

Johnston

Bronsky²

1995

Critical Reviews in Oral Biology & Medicine

115

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Technical advances are radically altering our concepts of normal prenatal craniofacial development. These include concepts of germ layer formation, the establishment of the initial head plan in the neural plate, and the manner in which head segmentation is controlled by regulatory (homeobox) gene activity in neuromeres and their derived neural crest cells. There is also a much better appreciation of ways in which new cell associations are established. For example, the associations are achieved by neural crest cells primarily through ceil migration and subsequent cell interactions that regulate induction, growth, programmed cell death, etc. These interactions are mediated primarily by two groups of regulatory molecules, "growth factors" (e.g., FGF and TGFoc) and the so-called steroid/thyroid/retinoic acid superfamily. Considerable advances have been made with respect to our understanding of the mechanisms involved in primary and secondary palate formation, such as growth, morphogenetic movements, and the fusion/merging phenomenon. Much progress has been made on the mechanisms involved in the final differentiation of skeletal tissues.Molecular genetics and animal models for human malformations are providing many insights into abnormal development. A mouse model for the fetal alcohol syndrome (FAS), a mild form of holoprosencephaly, demonstrates a mid-line anterior neural plate deficiency which leads to olfactory placodes being positioned too close to the mid-line, and other secondary changes. Work on animal models for the retinoic acid syndrome (RAS) shows that there is major involvement of neural crest cells. There is also major crest cell involvement in similar syndromes, apparently including hemifacial microsomia. Later administration of retinoic acid prematurely and excessively kills ganglionic placodal cells and leads to a malformation complex virtually identical to the Treacher Collins syndrome. Most clefts of the lip and/or palate appear to have a multifactorial etiology. Genetic variations in TGFocs, RARocs, NADH dehydrogenase, an enzyme involved in oxidative metabolism, and cytochrome P-450, a detoxifying enzyme, have been implicated as contributing genetic factors. Cigarette smoking, with the attendant hypoxia, is a probable contributing environmental factor. It seems likely that few clefts involve single major genes. In most cases, the pathogenesis appears to involve inadequate contact and/or fusion of the facial prominences or palatal shelves. Specific mutations in genes for different FGF receptor molecules have been identified for achondroplasia and Crouzon's syndrome, and in a regulatory gene (Msx2) for one type of craniosynostosis. Poorly co-ordinated control of form and size of structures, or groups of structures (e.g., teeth and jaws), by regulatory genes should do much to explain the very frequent "mismatches" found in malocclusions and other dentofacial "deformities".Future directions for research, including possibilities for prevention, are discussed.

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“…Most cases are sporadic, but there are rare familial cases that exhibit autosomal dominant inheritance. (Pober et al, 1993;Rollnick & Kaye, 1983). Molecular testing is not available.…”

Section: Hemifacial Microsomia (Goldenhar Syndrome) Omim #164210mentioning

confidence: 99%