Macrocephaly diagnosed during well child visits

Yılmazbaş, Pınar; Gökçay, Gülbin; Eren, Tijen; Karapinar, Esra; Kural, Bahar

doi:10.1111/ped.13543

Cited by 9 publications

(10 citation statements)

References 15 publications

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“…The prevalence of macrocephaly, by definition, is approximately 2% of all pregnancies. Interestingly, in the neonatal population 0.9% are macrocephalic by the same definition, with HC> +2SD, with most being familial macrocephaly, with one or both parents exhibiting a large head 5 . Most macrocephalic fetuses have normal postnatal growth and development with the HC being between +2SD and +2.5SD with a higher prevalence in males 5 .…”

Section: Prevalencementioning

confidence: 99%

“…Interestingly, in the neonatal population 0.9% are macrocephalic by the same definition, with HC> þ2SD, with most being familial macrocephaly, with one or both parents exhibiting a large head. 5 Most macrocephalic fetuses have normal postnatal growth and development with the HC being between þ2SD and þ2.5SD with a higher prevalence in males. 5 It should be noted that the sonographic diagnosis of an enlarged fetal HC has low specificity with a high number of false positive cases.…”

Section: Prevalencementioning

confidence: 99%

“…5 Most macrocephalic fetuses have normal postnatal growth and development with the HC being between þ2SD and þ2.5SD with a higher prevalence in males. 5 It should be noted that the sonographic diagnosis of an enlarged fetal HC has low specificity with a high number of false positive cases. Indeed, only 67% of the children diagnosed with fetal macrocephaly are born with a truly enlarged HC.…”

Section: Prevalencementioning

confidence: 99%

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Fetal macrocephaly: Pathophysiology, prenatal diagnosis and management

Shinar,

Chitayat,

Shannon

et al. 2023

Prenatal Diagnosis

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Macrocephaly means a large head and is defined as a head circumference (HC) above the 98th percentile or greater than +2SD above the mean for gestational age. Macrocephaly can be primary and due to increased brain tissue (megalocephaly), which in most cases is familial and benign or secondary. The latter may be due to various causes, including but not limited to communicating or non‐communicating hydrocephalus, cerebral edema, focal and pericerebral increased fluid collections, thickened calvarium and brain tumors. Megalocephaly can be syndromic or non‐syndromic. In the former, gyral and structural CNS anomalies are common. It is important to exercise caution when considering a diagnosis of megalocephaly due to limitations in the accuracy of HC measurement, lack of nomograms for specific populations, inconsistencies between prenatal and postnatal HC growth curves and progression over time. The degree of macrocephaly is important, with mild macrocephaly ≤2.5SD carrying a good prognosis, especially when one of the parents has macrocephaly and normal development. Cases in which the patient history and/or physical exam are positive or when parental HC are normal are more worrisome and warrant a neurosonogram, fetal MRI and genetic testing to better delineate the underlying etiology and provide appropriate counseling.

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Section: Prevalencementioning

confidence: 99%

Section: Prevalencementioning

confidence: 99%

Section: Prevalencementioning

confidence: 99%

See 1 more Smart Citation

Fetal macrocephaly: Pathophysiology, prenatal diagnosis and management

Shinar,

Chitayat,

Shannon

et al. 2023

Prenatal Diagnosis

View full text Add to dashboard Cite

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“…Macrocephaly (or macrocrania) is clinically defined as an abnormally large head with an occipitofrontal circumference (OFC) >2 standard deviations (SD) above the mean or greater than the 97 th centile for a given age and sex (3). Of note, many children with mild macrocephaly, i.e., with an OFC between +2 and +3 SD (corresponding to the 99.7 th centile) (4,5) have normal development and up to 60% of them have a familial recurrence of benign macrocephaly (6). On the other hand, children with an OFC exceeding 3 SD typically present with neurogenetic disorders characterized by intellectual disability (ID), autism spectrum disorders (ASD), and frequent comorbidities (7).…”

Section: Terminology and Classificationsmentioning

confidence: 99%

“…It is caused by mutations in NF1, encoding neurofibromin which functions as a tumor suppressor and negative growth regulator by inhibiting the Ras/MAPK signaling pathway. Traditionally, a clinical diagnosis is established in the presence of any two of the following criteria: (1) cafe-au-lait spots; (2) axillary or inguinal freckling; (3) Lisch nodules; (4) neurofibromas/plexiform neurofibroma; 5) optic pathway gliomas (OPG); (6) distinctive osseous lesion such as sphenoid dysplasia and pseudoarthrosis; (7) first degree relative with NF1 (130). Since not all these features are clinically present during the first years of life, molecular genetic testing is recommended in children even though they fulfill only pigmentary features of NF1 (131).…”

Section: Macrocephaly Associated With Neurocutaneous Syndromesmentioning

confidence: 99%

Diagnostic Approach to Macrocephaly in Children

et al. 2022

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Macrocephaly affects up to 5% of the pediatric population and is defined as an abnormally large head with an occipitofrontal circumference (OFC) >2 standard deviations (SD) above the mean for a given age and sex. Taking into account that about 2–3% of the healthy population has an OFC between 2 and 3 SD, macrocephaly is considered as “clinically relevant” when OFC is above 3 SD. This implies the urgent need for a diagnostic workflow to use in the clinical setting to dissect the several causes of increased OFC, from the benign form of familial macrocephaly and the Benign enlargement of subarachnoid spaces (BESS) to many pathological conditions, including genetic disorders. Moreover, macrocephaly should be differentiated by megalencephaly (MEG), which refers exclusively to brain overgrowth, exceeding twice the SD (3SD—“clinically relevant” megalencephaly). While macrocephaly can be isolated and benign or may be the first indication of an underlying congenital, genetic, or acquired disorder, megalencephaly is most likely due to a genetic cause. Apart from the head size evaluation, a detailed family and personal history, neuroimaging, and a careful clinical evaluation are crucial to reach the correct diagnosis. In this review, we seek to underline the clinical aspects of macrocephaly and megalencephaly, emphasizing the main differential diagnosis with a major focus on common genetic disorders. We thus provide a clinico-radiological algorithm to guide pediatricians in the assessment of children with macrocephaly.

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Epidemiology of Macrocephaly in the Texas Birth Defects Registry, 1999–2019

Allred,

Aguilar‐Martinez,

Howell

et al. 2024

Birth Defects Research

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BackgroundMacrocephaly is a clinical observation denoted as an occipitofrontal head circumference exceeding two standard deviations above same age and sex norms. By its definition, macrocephaly occurs in approximately 3% of the population. Descriptive epidemiologic evaluations of macrocephaly are lacking in the literature. The primary objective of this study was to describe the prevalence of macrocephaly captured by the Texas Birth Defects Registry (TBDR) by infant sex, rural/urban residence, and select maternal characteristics.MethodsCases of TBDR between 1999 and 2019 with a six‐digit Centers for Disease Control modified‐British Pediatric Association (BPA) code of 742.400 (enlarged brain/head, large head, macrocephaly, megalencephaly) were identified. All pregnancy outcomes and diagnostic certainties were included. Prevalence (per 10,000 live births) and 95% confidence intervals (CIs) were calculated using a Poisson table by rural/urban residence, infant sex, maternal age, education, race/ethnicity, history of diabetes, and body mass index (BMI). Prevalence calculations were repeated across multiple sensitivity analyses including (1) definite, isolated cases excluding those with indication of being either “benign” or “familial”, (2) definite, non‐isolated cases, (3) definite non‐isolated cases excluding chromosomal and syndromic cases, and (4) definite, proportionate (at birth) cases. A secondary objective was to describe the most common co‐occurring congenital defects among definite, non‐isolated cases.ResultsOverall, between 1999 and 2019, 14,637 cases of macrocephaly were identified in the TBDR resulting in a prevalence of 18.12/10,000 live births (95% CI: 17.83–18.42). Most cases were live born (99%), had a definite diagnosis (87%), and were non‐isolated (57%). Prevalence was significantly higher among males, among those with an urban residence, and among mothers who were older, Non‐Hispanic White, who had greater than high school education, who had a history of diabetes, and who were obese. Prevalence patterns remained consistent across all sensitivity analyses. The most common co‐occurring congenital defects among definite, non‐isolated cases were minor and primarily included skull and facial bone anomalies (e.g., plagiocephaly [18%]).ConclusionsTo our knowledge, this is the first epidemiologic evaluation of macrocephaly in a birth defects registry. The long‐term clinical impact of isolated macrocephaly is not well understood and should be the focus of future investigations.

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Macrocephaly diagnosed during well child visits

Abstract: MC was not rare in the present well child unit population. The evaluation of parental HC and cranial ultrasonography might be important for the differential diagnosis.

Cited by 9 publications

References 15 publications

Fetal macrocephaly: Pathophysiology, prenatal diagnosis and management

Fetal macrocephaly: Pathophysiology, prenatal diagnosis and management

Diagnostic Approach to Macrocephaly in Children

Epidemiology of Macrocephaly in the Texas Birth Defects Registry, 1999–2019

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