Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2022 Nov 22;22(1):522.
doi: 10.1186/s12903-022-02594-4.

The dental phenotype of primary dentition in SATB2-associated syndrome: a report of three cases and literature review

Xiaojing Li  1 , Xiaowei Ye  1 , Jimei Su  2
Affiliations
Review

The dental phenotype of primary dentition in SATB2-associated syndrome: a report of three cases and literature review

Xiaojing Li et al. BMC Oral Health. .

Abstract

Background: SATB2-associated syndrome (SAS; OMIM: 612,313) is an autosomal dominant inherited multisystemic disorder caused by several variants of the SATB2 gene. SAS is characterized by intellectual disability, developmental delay, severe speech anomalies, craniofacial anomalies, and dental abnormalities. Here, we report the dental phenotype of primary dentition of three Chinese children with SAS.

Case presentation: All three cases with SAS showed intellectual disability, speech and language anomalies, and palate anomalies. For the dental phenotype, all three cases showed macrodontia, crowded dentition, extensive caries, periapical abscesses and fistulas. Radiographs showed the wide-open root apex of deciduous teeth, loss of mandibular second bicuspids, delayed root formation of permanent teeth, rotated teeth, and taurodontism. Sanger sequencing of case 1 showed that there was a heterozygous code shift variation, c1985delT (p.F662Sfs*9) in the SATB2 gene, which has not been reported in literature. Root canal therapy, carious restoration, and teeth extraction were managed promptly, while preventive dental care was given regularly.

Conclusions: The dental phenotype of primary dentition in SAS may show macrodontia, crowded dentition, severe caries, wide-open root apex of deciduous teeth, loss of mandibular second bicuspids, delayed root formation of permanent teeth, rotated teeth, and taurodontism. Regular oral hygiene instructions and preventive dental care are both required.

Keywords: Dental abnormalities; SATB2 gene; SATB2-associated syndrome.

PubMed Disclaimer

Conflict of interest statement

The authors declare that there is no conflict of interest.

Figures

Fig. 1
Fig. 1
Clinical and radiographic features of case 1 with SAS. A The extraoral photo showing a flat philtrum, and a thin upper lip; B–E The intraoral photos showing macrodontia, crowded teeth, caries and periapical abscesses (black arrows); F–H The periapical radiographs of deciduous anterior teeth showing wide-open root apex and periapical low-density image (white arrows), and malformed and inverted permanent teeth 11 and 21 (black arrows), with the missing tooth buds of permanent teeth 31 and 41
Fig. 2
Fig. 2
Clinical and radiographic features of case 2 with SAS. A The extraoral photo showing cherry-like lips and thin upper lip; B–C The intraoral photo showing extensive caries, crowed teeth, malposed teeth and poor oral hygiene; D Panoramic radiographs showing loss of mandibular second bicuspids, delayed root formation of primary teeth 75 and 85 (black arrows), and permanent teeth 36 and 46 (white arrows)
Fig. 3
Fig. 3
Clinical and radiographic features of case 3 with SAS. A The extraoral photo showing a long face, long philtrum, and a thin upper lip; B–C The intraoral photo showing large teeth, crowded teeth, talon cusp of teeth 52 and 62 (black arrows), proximal caries, and fistulas and draining abscesses (white arrow); D Periapical radiographs showing the large canal and pulp cavity of tooth 74, low-density image in root apical of deciduous tooth 74, wide-open root apex of deciduous molar tooth 75
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

References

    1. Zarate YA, Fish JL. SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations. Am J Med Genet A. 2017;173(2):327–337. doi: 10.1002/ajmg.a.38022. - DOI - PMC - PubMed
    1. Glass IA, Swindlehurst CA, Aitken DA, McCrea W, Boyd E. Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase. J Med Genet. 1989;26(2):127–130. doi: 10.1136/jmg.26.2.127. - DOI - PMC - PubMed
    1. Bengani H, Handley M, Alvi M, Ibitoye R, Lees M, Lynch SA, Lam W, Fannemel M, Nordgren A, Malmgren H, et al. Clinical and molecular consequences of disease-associated de novo mutations in SATB2. Genetic Med Offic J Am College Med Genetic. 2017;19(8):900–908. doi: 10.1038/gim.2016.211. - DOI - PMC - PubMed
    1. Cotton AP, Gokarakonda S, Caffrey AR, Zarate YA, Kumar N. Behavioral phenotype and sleep problems in SATB2-associated syndrome. Dev Med Child Neurol. 2020;62(7):827–832. doi: 10.1111/dmcn.14330. - DOI - PubMed
    1. Thomason A, Pankey E, Nutt B, Caffrey AR, Zarate YA. Speech, language, and feeding phenotypes of SATB2-associated syndrome. Clin Genet. 2019;96(6):485–492. doi: 10.1111/cge.13619. - DOI - PubMed

Substances

Supplementary concepts

LinkOut - more resources