The Influence of Gender and Laterality on the Incidence of Hemifacial Microsomia

Xu, Shaomao; Zhang, Zhiyong; Tang, Xiaojun; Yin, Lifang; Liu, Wei; Shi, Lei

doi:10.1097/scs.0000000000001336

Cited by 19 publications

(25 citation statements)

References 33 publications

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“…The aim of this study was to present an overview of the extracraniofacial anomalies in CFM and to determine which patients with CFM have an increased likelihood for having these anomalies. A total of 991 patients were included, with a male to female ratio of 1.14:1, which is in line with previous literature (22). Eighteen percent of the patients were diagnosed with bilateral CFM, which is higher than the 13,6% reported by meta-analysis by Xu et al (22).…”

Section: Discussionsupporting

confidence: 71%

Extracraniofacial anomalies in craniofacial microsomia: retrospective analysis of 991 patients

Renkema

Caron

Pauws

et al. 2019

International Journal of Oral and Maxillofacial Surgery

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Craniofacial microsomia (CFM) is characterized by a unilateral or bilateral underdevelopment of the facial structures arising from the first and second pharyngeal arches, but extracraniofacial anomalies may be present. This retrospective study provides an overview of the prevalence and types of extracraniofacial anomalies in patients with CFM and studied the characteristics of patients with CFM and extracraniofacial anomalies. All patients diagnosed with CFM seen in four craniofacial centers were included. Patients charts were reviewed and data on patient characteristics and extracraniofacial anomalies were extracted. A total of 991 patients were included. Forty-six percent of the patients had extracraniofacial anomalies. The prevalence of extracraniofacial anomalies in all various tracts was: vertebral 28%, central nervous system 11%, circulatory system 21%, respiratory tract 3%, gastro-intestinal tract 9%, and urogenital tract 11%. Patients with an extracraniofacial anomaly had a higher risk for having additional extracraniofacial anomalies in other tracts compared to patients without extracraniofacial anomalies. The prevalence of extracraniofacial anomalies was greater in patients with bilateral CFM, a more severe mandibular deformity or facial nerve or soft tissue deformity. Patients with CFM should be screened for extracraniofacial anomalies by psychical examination with specific attention aimed at the circulatory, renal, and neurological tracts. Diagnostically, electrocardiography, echocardiogram, spine radiography and a renal ultrasound should be obtained in patients at risk for extracraniofacial anomalies.

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Section: Discussionsupporting

confidence: 71%

Extracraniofacial anomalies in craniofacial microsomia: retrospective analysis of 991 patients

Renkema

Caron

Pauws

et al. 2019

International Journal of Oral and Maxillofacial Surgery

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“…It is noteworthy that hemifacial microsomia and unilateral retrognathic occlusion, two conditions with a smaller mandible on one side of the face, both exhibit fluctuating asymmetry (Xu et al, ). Hemifacial macrosomia occurs in the 4 th week of pregnancy and has a wide spectrum of clinical severity ranging from mild to severe (Kan, Doyle, & de Chalain, ; Vento, LaBrie, & Mulliken, ).…”

Section: Discussionmentioning

confidence: 99%

Lower face asymmetry as a marker for developmental instability

Hujoel

Masterson

Bollen

2017

American J Hum Biol

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“…Hemifacial microsomia (HFM [MIM: 164210]), also known as otomandibular dysostosis and craniofacial microsomia, is a type of rare congenital genetic syndrome caused by developmental disorders of the first and second pharyngeal arches. The estimated occurrence rate is 1 in 5,600 live births, with no gender or laterality differences (Grabb, 1965;Xu et al, 2015). As one of the manifestations of the oculo-auriculovertebral spectrum (OAVS), recently re-estimated to show a prevalence of 3.8/100,000 live births, additional clinical findings are also frequently found in HFM patients, including other craniofacial anomalies and conditions affecting other organs and systems, such as urogenital anomalies, brain anomalies, microcephaly, heart defects, and short stature (Tasse et al, 2005).…”

Section: Introductionmentioning

confidence: 99%

A Mutation in VWA1, Encoding von Willebrand Factor A Domain-Containing Protein 1, Is Associated With Hemifacial Microsomia

Wang

Luan

Chen

et al. 2020

Front. Cell Dev. Biol.

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Background: Hemifacial microsomia (HFM) is a type of rare congenital syndrome caused by developmental disorders of the first and second pharyngeal arches that occurs in one out of 5,600 live births. There are significant gaps in our knowledge of the pathogenic genes underlying this syndrome. Methods: Whole exome sequencing (WES) was performed on five patients, one asymptomatic carrier, and two marry-in members of a five-generation pedigree. Structure of WARP (product of VWA1) was predicted using the Phyre2 web portal. In situ hybridization and vwa1-knockdown/knockout studies in zebrafish using morpholino and CRISPR/Cas9 techniques were performed. Cartilage staining and immunofluorescence were carried out. Results: Through WES and a set of filtration, we identified a c.G905A:p.R302Q point mutation in a novel candidate pathogenic gene, VWA1. The Phyre2 web portal predicted alterations in secondary and tertiary structures of WARP, indicating changes in its function as well. Predictions of protein-to-protein interactions in five pathways related to craniofacial development revealed possible interactions with four proteins in the FGF pathway. Knockdown/knockout studies of the zebrafish revealed deformities of pharyngeal cartilage. A decrease of the proliferation of cranial neural crest cells (CNCCs) and alteration of the structure of pharyngeal chondrocytes were observed in the morphants as well.

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The Influence of Gender and Laterality on the Incidence of Hemifacial Microsomia

Abstract: This meta-analysis reveals no difference in the incidence of hemifacial microsomia between male and female patients; in addition, there is no obvious difference in distribution between the left and right sides of the head.

Cited by 19 publications

References 33 publications

Extracraniofacial anomalies in craniofacial microsomia: retrospective analysis of 991 patients

Extracraniofacial anomalies in craniofacial microsomia: retrospective analysis of 991 patients

Lower face asymmetry as a marker for developmental instability

A Mutation in VWA1, Encoding von Willebrand Factor A Domain-Containing Protein 1, Is Associated With Hemifacial Microsomia

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