A Comprehensive Craniofacial Study of 22q11.2 Deletion Syndrome

Abstract

The 22q11.2 deletion syndrome (22q11.2DS) is one of the most frequent microdeletion syndromes and presents with a highly variable phenotype. In most affected individuals, specific but subtle facial features can be seen. In this observational study, we aim to investigate the craniofacial and dental features of 20 children with a confirmed diagnosis of 22q11.2DS by analyzing 3-dimensional (3D) facial surface scans, 2-dimensional (2D) clinical photographs, panoramic and cephalometric radiographs, and dental casts. The 3D facial scans were compared to scans of a healthy control group and analyzed using a spatially dense geometric morphometric approach. Cephalometric radiographs were digitally traced, and measurements were compared to existing standards. Occlusal and dental features were studied on dental casts and panoramic radiographs. Interestingly, a general trend of facial hypoplasia in the lower part of the face could be evidenced with the 3D facial analysis in children with 22q11.2DS compared to controls. Cephalometric analysis confirmed a dorsal position of the mandible to the maxilla in 2D and showed an enlarged cranial base angle. Measurements for occlusion did not differ significantly from standards. Despite individual variability, we observed a retruded lower part of the face as a common feature, and we also found a significantly higher prevalence of tooth agenesis in our cohort of 20 children with 22q11.2DS (20%). Furthermore, 3D facial surface scanning proved to be an important noninvasive, diagnostic tool to investigate external features and the underlying skeletal pattern.

Dental Findings in Patients With Non-surgical Hypoparathyroidism and Pseudohypoparathyroidism: A Systematic Review

“…Table 2 illustrates study characteristics for Ns-HypoPT studies (Humphreys, 1939; Hansted and Holst, 1952; Hinrichs, 1956; Thew and Goulston, 1962; Pisanty, 1966; Sjöberg, 1966; Greenberg et al, 1969; Hermans et al, 1969; Moshkowitz et al, 1969; Riley, 1969; Nally, 1970; Frensilli et al, 1971; Lovestedt, 1971; Assif, 1977; Pisanty and Garfunkel, 1977; Myllärniemi and Perheentupa, 1978; Lindeberg, 1979; Goepferd and Flaitz, 1981; Illum et al, 1981; Jensen et al, 1981; Nikiforuk and Fraser, 1981; Børglum Jensen et al, 1983; Harrell, 1983; Ingemarsson, 1984; Lyles et al, 1985; de Carvalho et al, 1986; Porter and Scully, 1986; Ahonen et al, 1990; Porter et al, 1992, 1995; Walls and Soames, 1993; Hershkovitz et al, 1995; Lukinmaa et al, 1996; Firth et al, 1997; Jaquez et al, 1997; Perniola et al, 1998; Fukui et al, 2000; Winer and Merke, 2000; Klingberg et al, 2002, 2005, 2007; Al-Malik, 2004; López-Jornet et al, 2005; Oberoi and Vargervik, 2005; Yang et al, 2005; da Silva Dalben et al, 2008; McGovern et al, 2008; Kelly et al, 2009; Pavlic and Waltimo-Siren, 2009; Toka et al, 2010; Wasersprung et al, 2010; Heliövaara et al, 2011; Kollios et al, 2011; Oberoi et al, 2011; Nordgarden et al, 2012; Ponranjini et al, 2012; El Batawi, 2013; Kamarthi et al, 2013; Nortjé, 2013; Ali et al, 2014; Srirangarajan et al, 2014; Laccetta et al, 2015; Matthews-Brzozowska et al, 2015; Bruserud et al, 2016; Ferre et al, 2016; Bjanid et al, 2017; Lewyllie et al, 2017; Mohsenipour et al, 2017) with subgroups A–E corresponding to the classifi...…”

“…Table 4 illustrates study characteristics for all PHP studies (Croft et al, 1965; Ritchie, 1965; Okano et al, 1969; Glynne et al, 1972; Witkop, 1976; Myllärniemi and Perheentupa, 1978; Illum et al, 1980; Jensen et al, 1981; Nikiforuk and Fraser, 1981; Storm et al, 1985; Lagarde et al, 1989; Brown and Aaron, 1991; Cohen, 1991; Gomes et al, 2002; Goswami et al, 2009; Velez et al, 2009; Sengupta et al, 2012; Hugar et al, 2014; Reis et al, 2016; Delantoni et al, 2017; Gallacher et al, 2017) as a combined group, and Table 5 illustrates the oro-dental findings in PHP studies. The studies included were published between 1939 and 2017 (Humphreys, 1939; Lewyllie et al, 2017). The majority were case reports (52 papers) or case series (26 papers), and only nine cross-sectional and one prospective cohort study were included.…”

“…However, only 14 of the 68 studies (21%) on Ns-HypoPT reported information on the genetic molecular diagnosis of the disease. In the studies mentioned in Table 3, a number of additional findings as cemental hyperplasia, widened periodontal ligament space, widened apical foramen, thickening of lamina dura, hyperdontia, resorptions, forced bite, as well as osteitis with normal root formation were occasionally reported (Thew and Goulston, 1962; Frensilli et al, 1971; Jensen et al, 1981; Børglum Jensen et al, 1983; Toka et al, 2010; Nordgarden et al, 2012; El Batawi, 2013; Srirangarajan et al, 2014; Lewyllie et al, 2017). Dentinal changes were described in three publications (Jackson and Whyte, 1967; Kinirons and Glasgow, 1985; Fukui et al, 2000).…”

Orthopedic and orthodontic management in a patient with DiGeorge Syndrome and Familial Mediterranean Fever: A case report

“…Cephalometrically, the faces are long, both maxillae and mandibles are retrognathic, and the lower jaws are posteriorly divergated …”

Soft-tissue 3D Facial Imaging in Children and Adolescents: Towards the Definition of New Reference Standards

“…Examples include the evaluation and treatment planning of children with occlusal abnormalities [8,9], orofacial clefts [10], or cranial deformities [11], as well as the early diagnosis of congenital and genetic disorders (Down's syndrome, ectodermal dysplasia, Glut1 deficiency syndrome, Moebius syndrome, velocardiofacial syndrome) or acquired pathologies like fetal alcohol syndrome that modify facial phenotype [12][13][14][15][16][17][18].…”