Foramen magnum stenosis, cervicomedullary decompression, and growth in children with achondroplasia: a retrospective cohort study

Abstract Background Foramen magnum stenosis (FMS) is a serious complication in children with achondroplasia that may necessitate cervicomedullary decompression (CMD). It is unclear how FMS and CMD influence growth in these children. This study aimed to assess the effects of FMS and CMD on the growth of children with achondroplasia. Methods Eighty-seven children (45 males, 42 females) with achondroplasia, aged 4 to 6 years, were evaluated. Height, weight, head circumference, and body mass index were expressed as standard deviation scores (SDS) according to Merker et al., while sitting height SDS was derived using Tanner’s methods. FMS was graded on magnetic resonance imaging using Fornarino’s score. Results Fifty-two patients (26 males, 26 females) underwent CMD at a median age of 0.95 years (IQR 0.52;1.50). Of these, 28 (53.8%) were under one year old at the time of CMD, with a median age of 0.6 years (0.4;0.7). The remaining 24 children had CMD after their first year of life, with a median age of 1.6 years (1.3;2.8). The median age at anthropometric assessment was 5.16 years (4.74;5.50). Children who underwent CMD showed significantly lower median height SDS, particularly among males compared to females (p=0.026). Conclusions Impaired growth in children with foramen magnum stenosis requiring cervicomedullary decompression may primarily reflect greater disease severity, while the potential contribution of surgery remains uncertain.

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Journal
Orphanet Journal of Rare Diseases
Published
2026-01-29
DOI
https://doi.org/10.1186/s13023-026-04219-3
Primary Topic
Connective tissue disorders research
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article
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article

Foramen magnum stenosis, cervicomedullary decompression, and growth in children with achondroplasia: a retrospective cohort study

Alessia Angelelli, Natascia Di Iorgi, F. Napoli, Daniela Fava et al.
Orphanet Journal of Rare Diseases
Connective tissue disorders research
article

Foramen magnum stenosis, cervicomedullary decompression, and growth in children with achondroplasia: a retrospective cohort study

Alessia Angelelli, Natascia Di Iorgi, F. Napoli, Daniela Fava, Angelica Pisati, Giuseppa Patti, Marta Panciroli, Mariagrazia Scilipoti, Silvia Bianchin, Nadia Gabriella Maiorano, Alessandro Naim, Mohamad Maghnie, Caterina Tedesco, Sofia Negri, Anna Elsa Maria Allegri, Isabella Barranca, Daniela Teruzzi, The Skeletal Dysplasia Multidisciplinary Team (GM-MOC), Mariasavina Severino, Angela Pistorio, Alessandra Scaravilli
article en

Abstract

Abstract Background Foramen magnum stenosis (FMS) is a serious complication in children with achondroplasia that may necessitate cervicomedullary decompression (CMD). It is unclear how FMS and CMD influence growth in these children. This study aimed to assess the effects of FMS and CMD on the growth of children with achondroplasia. Methods Eighty-seven children (45 males, 42 females) with achondroplasia, aged 4 to 6 years, were evaluated. Height, weight, head circumference, and body mass index were expressed as standard deviation scores (SDS) according to Merker et al., while sitting height SDS was derived using Tanner’s methods. FMS was graded on magnetic resonance imaging using Fornarino’s score. Results Fifty-two patients (26 males, 26 females) underwent CMD at a median age of 0.95 years (IQR 0.52;1.50). Of these, 28 (53.8%) were under one year old at the time of CMD, with a median age of 0.6 years (0.4;0.7). The remaining 24 children had CMD after their first year of life, with a median age of 1.6 years (1.3;2.8). The median age at anthropometric assessment was 5.16 years (4.74;5.50). Children who underwent CMD showed significantly lower median height SDS, particularly among males compared to females (p=0.026). Conclusions Impaired growth in children with foramen magnum stenosis requiring cervicomedullary decompression may primarily reflect greater disease severity, while the potential contribution of surgery remains uncertain.

Orphanet Journal of Rare DiseasesVol. 21(1)
Istituto Giannina Gaslini (IT), Istituti di Ricovero e Cura a Carattere Scientifico (IT), University of Naples Federico II (IT), University of Genoa (IT)
Zero hunger
Openalex Percentile: Top 69%
Connective tissue disorders research
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