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.