Genetics of craniofacial malformations

Schmetz, Ariane; Amiel, Jeanne; Wieczorek, Dagmar

doi:10.1016/j.siny.2021.101290

Cited by 5 publications

(2 citation statements)

References 35 publications

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“…In addition to demarcating each arch, the pouch and cleft regions can serve as signaling centers that sculpt arch development. 3 A number of different human syndromes involving pharyngeal arch defects include DiGeorge syndrome, Pierre Robin Syndrome, Goldenhar syndrome and Treacher-Collins Syndrome, [4][5][6][7] as well as cleft lip/palate.…”

Section: Introductionmentioning

confidence: 99%

Foxi3^GFP and Foxi3^CreER mice allow identification and lineage labeling of pharyngeal arch ectoderm and endoderm, and tooth and hair placodes

Ankamreddy,

Thawani,

Birol

et al. 2023

Developmental Dynamics

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BackgroundFOXI3 is a forkhead family transcription factor that is expressed in the progenitors of craniofacial placodes, epidermal placodes, and the ectoderm and endoderm of the pharyngeal arch region. Loss of Foxi3 in mice and pathogenic Foxi3 variants in dogs and humans cause a variety of craniofacial defects including absence of the inner ear, severe truncations of the jaw, loss or reduction in external and middle ear structures, and defects in teeth and hair.ResultsTo allow for the identification, isolation, and lineage tracing of Foxi3‐expressing cells in developing mice, we targeted the Foxi3 locus to create Foxi3GFP and Foxi3CreER mice. We show that Foxi3GFP mice faithfully recapitulate the expression pattern of Foxi3 mRNA at all ages examined, and Foxi3CreER mice can trace the derivatives of pharyngeal arch ectoderm and endoderm, the pharyngeal pouches and clefts that separate each arch, and the derivatives of hair and tooth placodes.ConclusionsFoxi3GFP and Foxi3CreER mice are new tools that will be of use in identifying and manipulating pharyngeal arch ectoderm and endoderm and hair and tooth placodes.

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Section: Introductionmentioning

confidence: 99%

Foxi3^GFP and Foxi3^CreER mice allow identification and lineage labeling of pharyngeal arch ectoderm and endoderm, and tooth and hair placodes

Ankamreddy,

Thawani,

Birol

et al. 2023

Developmental Dynamics

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“…It can cause various degrees of disfigurements, leading to developmental and functional abnormalities [ 2 , 3 ]. Studies also found that craniofacial malformations can associate with more serious chromosomal abnormalities or metabolic disorders [ 4 , 5 ]. Early identifications of craniofacial malformations can facilitate informed prenatal counseling, appropriate genetic evaluations, and careful family planning.…”

Section: Introductionmentioning

confidence: 99%

Ultrasound measurements of fetal facial profile markers and their associations with congenital malformations during early pregnancy

Liao,

Wang,

Shang

et al. 2023

BMC Pregnancy Childbirth

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Background Fetal facial profile could be measured during the early pregnancy. Its abnormalities might be associated with certain congenital malformations. We aimed to study the associations between fetal facial profile measurements with crown-rump length and congenital malformations (cleft lip and palate, micrognathia, and open spina bifida) during early pregnancy. Methods We performed a prospective cross-sectional study between June 2019 and April 2022. Pregnant women at a gestational age between 11–13+ 6 weeks were enrolled. Two sonographers performed fetal facial profile measurements independently. The associations between these measurements with crown-rump length and congenital malformations were evaluated. Results There were 406 and 25 fetuses without or with congenital malformations, respectively. Two sonographers showed satisfactory inter- and intra-observer agreements and reproducibility. The maxillary gap was only observed in 7.6% of normal fetuses, whereas all cleft lip and palate fetuses had a maxillary gap ≥ 0.8 mm. The crown-rump length was negatively correlated with frontomaxillary facial angle, inferior facial angle, and profile line distance but positively correlated with maxilla-nasion-mandible angle, facial maxillary angle, frontal space distance, and palatine maxillary diameter. These measurements showed various significant changes with different congenital malformations. Conclusions Measurements of fetal facial profile in early pregnancy were feasible with satisfactory reproducibility. These measurements correlated with crown-rump length and showed significant differences with certain fetal congenital malformations.

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Abnormal Eye Position

Bindra,

Pontell,

O’Sick

et al. 2023

Pediatrics in Review

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Genetics of craniofacial malformations

Cited by 5 publications

References 35 publications

Foxi3^GFP and Foxi3^CreER mice allow identification and lineage labeling of pharyngeal arch ectoderm and endoderm, and tooth and hair placodes

Foxi3^GFP and Foxi3^CreER mice allow identification and lineage labeling of pharyngeal arch ectoderm and endoderm, and tooth and hair placodes

Ultrasound measurements of fetal facial profile markers and their associations with congenital malformations during early pregnancy

Abnormal Eye Position

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Genetics of craniofacial malformations

Cited by 5 publications

References 35 publications

Foxi3GFP and Foxi3CreER mice allow identification and lineage labeling of pharyngeal arch ectoderm and endoderm, and tooth and hair placodes

Foxi3GFP and Foxi3CreER mice allow identification and lineage labeling of pharyngeal arch ectoderm and endoderm, and tooth and hair placodes

Ultrasound measurements of fetal facial profile markers and their associations with congenital malformations during early pregnancy

Abnormal Eye Position

Contact Info

Product

Resources

About

Foxi3^GFP and Foxi3^CreER mice allow identification and lineage labeling of pharyngeal arch ectoderm and endoderm, and tooth and hair placodes

Foxi3^GFP and Foxi3^CreER mice allow identification and lineage labeling of pharyngeal arch ectoderm and endoderm, and tooth and hair placodes