Introduction
The short root anomaly (SRA) was first described in 1972 as a developmental anomaly of the dental roots, characterized by a root-to-crown ratio of 1:1 or less (Lind, 1972). The condition may also be associated with a range of other dental anomalies, including hypodontia, microdontia, obliterated pulp chambers, dentin dysplasia type I, taurodontism, dens invaginatus and talon cusp (Puranik et al., 2015). SRA primarily affects the permanent maxillary central incisors and involves other teeth bilaterally, followed by maxillary premolars, maxillary lateral incisors, and mandibular premolars, with the lowest prevalence in canines and molars but rarely affects all permanent teeth (Lind, 1972; Apajalahti et al., 2002). The detection of SRA is often incidental and the prevalence of SRA in any teeth type is estimated to be between 0.6 and 2.4% (Apajalahti et al., 2002; Jakobson, 1973), with a higher incidence observed in females, with a ratio of approximately 1:2.6 to 1:2.7 (Apajalahti et al, 2002; Jakobson, 1973). Despite the short roots, the affected teeth have normal crown morphology (Edwards, 1990, Apajalahti et al., 2002; Puranik et al., 2015) and exhibit normal pulp chambers, root canals, and closed apices, supported by normal periodontal tissues (Lind, 1972; Apajalahti et al., 2002; Puranik et al., 2015). The term ’hereditary idiopathic root malformation’ has been proposed for cases not associated with any specific syndrome (Puranik et al., 2015).
Certain syndromes and metabolic disorders also present reduced root length. These include Stevens-Johnson syndrome (De Man, 1979; Gaultier et al., 2009; Yongho et al., 2017), Turner syndrome (Pentinpuro et al., 2013), Fraser syndrome (Kunz et al., 2020), Hallermann-Streiff syndrome (Robotta and Schafer, 2011), and Schimke immuno-osseous dysplasia (Gendronneau et al., 2014). Furthermore, metabolic disorders such as pseudohypoparathyroidism (Gallacher et al., 2018; Hejlesen et al., 2019), hypophosphatasia (Wei et al., 2010), and vitamin D-dependent rickets type I (Zambrano et al., 2003) also present with shortened roots. There is a significant association between maternal or passive smoking during pregnancy and SRA. Children whose mothers smoked were found to be 4.95 times more likely to have SRA (Sagawa, 2021).
Transverse hemimelia is a congenital limb deficiency characterised by the absence of a limb segment, typically involving structures distal to a certain level while the proximal part remains intact. This condition is frequently categorised according to the level of limb absence, with the classification typically based on whether the absence extends to below the elbow (forearm) or below the knee (leg). It is a constituent of a more expansive category of limb deficiencies, designated as terminal transverse limb defects. With regard to the genetic aspects of hemimelia, it typically occurs as a sporadic event and is not generally considered to be of genetic origin (Lenz, 1980). The etiology of hemimelia has been attributed to genetic factors as part of syndromes (Holt-Oram, TAR) as well as to exogenous environmental factors, such as drug intake (thalidomide) (Bermejo-Sánchez et al., 2011). In the majority of cases, the precise aetiology remains undetermined, with no discernible genetic or environmental factors (Bermejo-Sánchez et al., 2011). Furthermore, there is no evidence for familial recurrence (Froster-Iskenius and Baird, 1990). The available data on the prevalence of limb deficiency are limited, with the majority of published articles on this congenital defect comprising single case reports or limited series (Bermejo-Sánchez et al., 2011).
The purpose of this study is to present a rare case in which both SRA, affecting all permanent teeth, and hemimelia coexist, and to examine the potential factors associated with these developmental disorders.