Craniofacial Microsomia, Associated Congenital Anomalies, and Risk Factors in 63 Cases from the Alberta Congenital Anomalies Surveillance System

Thomas, Mary Ann; Bedard, Tanya; Crawford, Susan; Grevers, Xin; Lowry, R. Brian

doi:10.1016/j.jpeds.2023.113528

Cited by 2 publications

(5 citation statements)

References 38 publications

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“…In our study, maternal arterial hypertension was more frequent in the group of cases (17.1%) than in the controls (7%), but with no statistically significant difference ( p = .129). The same was reported by Thomas et al (2023).…”

Section: Discussionsupporting

confidence: 89%

“…In the case and control studies on craniofacial microsomia that we identified in the literature, the type of delivery variable was not evaluated. As for the age of the mothers of the patients in the case group, 26.8% were 35 years of age or older during pregnancy, which was also described by Thomas et al (2023). That is, more patients in the group of babies diagnosed with craniofacial microsomia had advanced maternal age.…”

Section: Discussionsupporting

confidence: 75%

“…In our study, we investigated 43 patients, which is similar to that described by Beleza‐Meireles et al (2015) (51), Tingaud‐Sequeira et al (2022) (53), and Thomas et al (2023) (63); and different of Werler et al (2009) (230) and Siebold et al (2019) 104). The majority of patients in our sample were male (27 cases—62.8%), which is in agreement with what was reported by Werler et al (2009) and Siebold et al (2019) and according to the literature, but different from Thomas et al (2023).…”

Section: Discussionmentioning

confidence: 67%

“…History of non‐gestational diabetes was more frequent in the case group than in the controls 8.6% versus 0% ( p = .009). Other studies also demonstrated an association between craniofacial microsomia and maternal diabetes (Siebold et al, 2019; Werler et al, 2009), while Thomas et al (2023) did not verify statistically significant differences. The occurrence of cases of craniofacial microsomia in children of mothers with diabetes mellitus reinforces the hypothesis of vascular rupture (Cohen Jr et al, 1989; Poswillo, 1973; Silva et al, 2015; Wang et al, 2002).…”

Section: Discussionmentioning

confidence: 91%

“…In our sample, five patients in the case group died after birth, against none in the control group ( p < .001). Thomas et al (2023) reported three infants who died within the first 3 months after birth. Of the five deaths in the case group, 4 had congenital heart disease and 1 had brain alterations.…”

Section: Discussionmentioning

confidence: 99%

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Risk factors and characteristics of the birth of patients with craniofacial microsomia, a case–control study

da Rosa,

Correia,

Silveira

et al. 2023

Birth Defects Research

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BackgroundCraniofacial microsomia (CM) is characterized by changes in the first and second branchial arches. It is a clinical condition whose etiology is still uncertain, but studies have shown that genetic, nutritional, and environmental factors can result in disorders of blastogenesis of the branchial arches. This study evaluates gestational aspects, focusing on possible risk factors associated with CM.MethodsThis is a case–control study conducted with patients monitored at a medical genetics service and compared to a control group of patients without evidence of malformations, born in a mother and child hospital, both located in Porto Alegre, Southern Brazil. Mothers’ data were obtained using questionnaires and by reviewing medical records. The sample consisted of 43 patients with CM (cases) and 129 patients without evidence of malformations (controls), paired by sex, totaling three controls for each case. Data analysis was performed using the two‐tailed Fisher's exact test, Pearson's chi‐square test, and the t‐test.ResultsWe identified several factors associated with the development of CM, including the use of abortion methods by the mothers of these babies (p = .001), maternal diabetes (p = .009), advanced maternal age (p = .035), and a history of vaginal bleeding (p < .001). Furthermore, these patients exhibited a tendency to be born prematurely (p = .027), with low birth weight (p = .007), and lower Apgar scores (p = .003) when compared to healthy infants. Using a multivariate model, the use of abortion methods (p = .003) and vaginal bleeding (p = .032) remained independently associated with craniofacial microsomia.ConclusionsWe have identified several risk factors for the development of CM, including a propensity for premature birth, low birth weight, and respiratory difficulties. Additionally, women of advanced maternal age and/or those who used abortion methods and/or have diabetes have a higher risk of giving birth to a baby with CM. This information can be valuable in clinical practice, especially for the prevention of future cases.

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Section: Discussionsupporting

confidence: 89%

Section: Discussionsupporting

confidence: 75%

Section: Discussionmentioning

confidence: 67%

Section: Discussionmentioning

confidence: 91%

Section: Discussionmentioning

confidence: 99%

See 3 more Smart Citations

Risk factors and characteristics of the birth of patients with craniofacial microsomia, a case–control study

da Rosa,

Correia,

Silveira

et al. 2023

Birth Defects Research

View full text Add to dashboard Cite

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Prenatal findings in 11 cases with craniofacial microsomia using the Alberta Congenital Anomalies Surveillance System, 1997–2019

Thomas,

Bedard,

Crawford

et al. 2024

American J of Med Genetics Pt A

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Craniofacial microsomia (CFM) primarily includes specific head and neck anomalies that co‐occur more frequently than expected. The anomalies are usually asymmetric and affect craniofacial features; however, there are frequently additional anomalies of variable severity. Published prenatal findings for CFM are limited. This study contributes 11 cases with CFM and their anomalies identified prenatally. Cases born between January 1, 1997 and December 31, 2019 with CFM were abstracted from the Alberta Congenital Anomalies Surveillance System, which is a population‐based program ascertaining congenital anomalies for livebirths, stillbirths, and termination of pregnancies for fetal anomalies. There were 11 cases ascertained with prenatal findings including facial anomalies: one each with left cleft lip, right microtia, and bilateral microphthalmia. Two cases had vertebral anomalies. In addition, anomalies of the kidneys, brain, heart, and radial ray were identified. Six (55%) had a single umbilical artery, five (45%) were small for gestational age, and three (27%) were from a twin pregnancy that were discordant for anomalies. Four (36%) overlapped another proposed recurrent constellations of embryonic malformation condition. This study describes prenatal findings for 11 cases with CFM. Comparable to prior published cases, there were recurring anomalies on prenatal imaging, including anomalies of the brain, eye, heart, kidneys, and radial ray, which may aid in the prenatal diagnosis of CFM.

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Craniofacial Microsomia, Associated Congenital Anomalies, and Risk Factors in 63 Cases from the Alberta Congenital Anomalies Surveillance System

Cited by 2 publications

References 38 publications

Risk factors and characteristics of the birth of patients with craniofacial microsomia, a case–control study

Risk factors and characteristics of the birth of patients with craniofacial microsomia, a case–control study

Prenatal findings in 11 cases with craniofacial microsomia using the Alberta Congenital Anomalies Surveillance System, 1997–2019

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