Craniofacial Morphology and Cephalometric Analysis of Children with Tall Stature and Overgrowth Due to Molecular Genetic Etiology: A Scoping Review

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.