Epidemiology of Rare Craniofacial Anomalies: Retrospective Western Australian Population Data Linkage Study

Mohammed Junaid; Linda Slack-Smith; Kingsley Wong; Jenny Bourke; Gareth Baynam; Hanny Calache; Helen Leonard

doi:10.1016/j.jpeds.2021.09.060

Epidemiology of Rare Craniofacial Anomalies: Retrospective Western Australian Population Data Linkage Study

J Pediatr. 2022 Feb:241:162-172.e9. doi: 10.1016/j.jpeds.2021.09.060. Epub 2021 Oct 7.

Authors

Mohammed Junaid¹, Linda Slack-Smith², Kingsley Wong³, Jenny Bourke³, Gareth Baynam⁴, Hanny Calache⁵, Helen Leonard⁶

Affiliations

¹ School of Population and Global Health, University of Western Australia, Nedlands, Western Australia; Telethon Kids Institute, University of Western Australia, Nedlands, Western Australia. Electronic address: mohammed.junaid@research.uwa.edu.au.
² School of Population and Global Health, University of Western Australia, Nedlands, Western Australia; Telethon Kids Institute, University of Western Australia, Nedlands, Western Australia.
³ Telethon Kids Institute, University of Western Australia, Nedlands, Western Australia.
⁴ Telethon Kids Institute, University of Western Australia, Nedlands, Western Australia; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, Western Australia.
⁵ Deakin Health Economics, Institute of Health Transformation, School of Health and Social Development, Faculty of Health, Deakin University, Geelong, Victoria, Australia; Department of Dentistry and Oral Health, La Trobe Rural Health School, La Trobe University, Bendigo, Victoria, Australia.
⁶ Telethon Kids Institute, University of Western Australia, Nedlands, Western Australia; Faculty of Health and Medical Sciences, Centre of Child Health Research, University of Western Australia, Nedlands, Western Australia.

PMID: 34626670
DOI: 10.1016/j.jpeds.2021.09.060

Abstract

Objective: To describe birth prevalence of rare craniofacial anomalies and associations with antenatal and perinatal factors.

Study design: All live and stillbirths in Western Australia between 1980 and 2010 were identified from the Western Australian Birth Registrations and the Midwives Notification System (also provides information on antenatal and perinatal factors). Rare craniofacial anomalies (craniosynostosis, craniofacial microsomia, and others [Pierre Robin, Van der Woude, and Treacher Collins syndrome]) were ascertained from the Western Australian Register of Developmental Anomalies and linked to other data sources. Trends in prevalence, adjusted for sex and Indigenous status, were investigated by Poisson regression and presented as annual percent change (APC). Strengths of association of related factors were assessed using multivariable log-binomial regression adjusted for sex, Indigenous status, birth year, socioeconomic disadvantage, and remoteness and reported as risk ratios with 95% CIs.

Results: There was a temporal increase in prevalence of metopic synostosis (APC 5.59 [2.32-8.96]) and craniofacial microsomia (Goldenhar syndrome) (APC 4.43 [1.94-6.98]). Rare craniofacial anomalies were more likely among infants born preterm, as twins or greater-order multiples, with growth restriction, to older parents, to mothers undertaking fertility treatments, and with pre-existing medical conditions, specifically epilepsy, diabetes, or hypothyroidism. Prenatal identification of rare craniofacial anomalies was uncommon (0.6%).

Conclusions: Our findings indicate a steady increase over time in prevalence of metopic synostosis and craniofacial microsomia (Goldenhar syndrome). Possible associations of fertility treatments and pre-existing maternal medical conditions with rare craniofacial anomalies require further investigation.

Keywords: Pierre Robin sequence; craniofacial microsomia; craniosynostosis; epidemiology.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Craniofacial Abnormalities / epidemiology*
Craniofacial Abnormalities / etiology
Female
Humans
Infant, Newborn
Information Storage and Retrieval
Male
Prevalence
Regression Analysis
Retrospective Studies
Risk Factors
Western Australia / epidemiology