Craniofacial Morphology and Cephalometric Analysis of Children with Tall Stature and Overgrowth Due to Molecular Genetic Etiology: A Scoping Review.
- 1Unit of Orofacial Genetics, 1st Department of Pediatrics, National Kapodistrian University of Athens, "Aghia Sophia" Children's Hospital, 115 27 Athens, Greece.
- 2Choremion Laboratory, University Research Institute of Maternal and Child Health and Precision Medicine, "Aghia Sophia" Children's Hospital, 115 27 Athens, Greece.
- 3Department of Orthodontics, School of Dentistry, National and Kapodistrian University of Athens, 115 27 Athens, Greece.
Abstract
Background
Tall stature is a multifactorial phenotypic trait encountered in the general pediatric population; however, it could constitute a manifestation of an underlying genetic and/or endocrine disorder. Mutations in genes involved in gene transcription, genomic imprinting and intracellular vesicle trafficking may lead to dysregulation of certain cellular pathways associated with different genetic syndromes with overgrowth and tall stature.Objective
Considering the facial changes that growth hormone surplus induces, it would be reasonable to hypothesize that the maxillofacial phenotype is also affected in certain genetic conditions causing excessive linear growth. The aim of this review is to assess the cephalometric data for certain genetic and/or endocrine diseases causing tall stature and overgrowth in children and discuss the potential role of cephalometric analysis in diagnosis of such phenotypes and better understanding of the underlying causing molecular mechanisms.Design
A literature search was conducted in the PubMed electronic database. The scientific articles that provided cephalometric data for genetic syndromes and conditions associated with tall stature or overgrowth were included. The following keywords were utilized: tall stature cephalometry, overgrowth syndromes cephalometry, gigantism cephalometry, hemihyperplasia cephalometric, hemihypertrophy cephalometric, Simpson-Golabi-Behmel cephalometric, Prader-Willi cephalometry, and Marfan and Klinefelter cephalometry.Results
Although the number of studies found remains limited (n = 37), the consensus findings indicate that the growth of the craniofacial complex of patients with genetic syndromes causing tall stature is affected. The cephalometric measurements assessing the cranial base, the jaws and the facial soft tissue differ from the norm and are suggestive of irregularities in both the sagittal and vertical planes.Conclusions
As the literature in this field is particularly rare, more data are required to establish relations between excessive linear growth and the maxillofacial phenotype exhibited in certain genetic and/or endocrine syndromes. Nevertheless, lateral cephalometric radiography is an extensively utilized imaging method that could potentially serve as a promising tool in the early diagnosis, phenotype-genotype comparative research and better understanding of the underlying causing molecular mechanisms of conditions associated with tall stature.
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BibTeX
@article{ziakas2026craniofacial,
title = {{Craniofacial Morphology and Cephalometric Analysis of Children with Tall Stature and Overgrowth Due to Molecular Genetic Etiology: A Scoping Review.}},
author = {Nickolas Ziakas and Myrsini Chamakioti and Iphigenia Gintoni and Demetrios J Halazonetis and George P Chrousos and Christos Yapijakis},
journal = {Genes},
year = {2026},
month = sep,
doi = {10.3390/genes17101167},
url = {https://europepmc.org/article/MED/42938283},
note = {CC BY},
}
RIS
TY - JOUR
TI - Craniofacial Morphology and Cephalometric Analysis of Children with Tall Stature and Overgrowth Due to Molecular Genetic Etiology: A Scoping Review.
AU - Nickolas Ziakas
AU - Myrsini Chamakioti
AU - Iphigenia Gintoni
AU - Demetrios J Halazonetis
AU - George P Chrousos
AU - Christos Yapijakis
PY - 2026
DA - 2026/09/23
JO - Genes
DO - 10.3390/genes17101167
UR - https://europepmc.org/article/MED/42938283
AB - Background Tall stature is a multifactorial phenotypic trait encountered in the general pediatric population; however, it could constitute a manifestation of an underlying genetic and/or endocrine disorder. Mutations in genes involved in gene transcription, genomic imprinting and intracellular vesicle trafficking may lead to dysregulation of certain cellular pathways associated with different genetic syndromes with overgrowth and tall stature.Objective Considering the facial changes that growth hormone surplus induces, it would be reasonable to hypothesize that the maxillofacial phenotype is also affected in certain genetic conditions causing excessive linear growth. The aim of this review is to assess the cephalometric data for certain genetic and/or endocrine diseases causing tall stature and overgrowth in children and discuss the potential role of cephalometric analysis in diagnosis of such phenotypes and better understanding of the underlying causing molecular mechanisms.Design A literature search was conducted in the PubMed electronic database. The scientific articles that provided cephalometric data for genetic syndromes and conditions associated with tall stature or overgrowth were included. The following keywords were utilized: tall stature cephalometry, overgrowth syndromes cephalometry, gigantism cephalometry, hemihyperplasia cephalometric, hemihypertrophy cephalometric, Simpson-Golabi-Behmel cephalometric, Prader-Willi cephalometry, and Marfan and Klinefelter cephalometry.Results Although the number of studies found remains limited (n = 37), the consensus findings indicate that the growth of the craniofacial complex of patients with genetic syndromes causing tall stature is affected. The cephalometric measurements assessing the cranial base, the jaws and the facial soft tissue differ from the norm and are suggestive of irregularities in both the sagittal and vertical planes.Conclusions As the literature in this field is particularly rare, more data are required to establish relations between excessive linear growth and the maxillofacial phenotype exhibited in certain genetic and/or endocrine syndromes. Nevertheless, lateral cephalometric radiography is an extensively utilized imaging method that could potentially serve as a promising tool in the early diagnosis, phenotype-genotype comparative research and better understanding of the underlying causing molecular mechanisms of conditions associated with tall stature.
SN - 2073-4425
ER -