Solitary median maxillary central incisor in association with hemifacial microsomia: A rare case report and review of literature

There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

Abstract

Solitary median maxillary central incisor (SMMCI) is a rare dental anomaly. It is estimated to occur in 1:50,000 live births. The SMMCI tooth differs from the normal central incisor in that the crown form is symmetric and it develops and erupts precisely in the midline of the maxillary dental arch in both primary and permanent dentitions. Presence of SMMCI with hemifacial microsomia (HFM) is a very rare clinical condition. We report a case of HFM in a male of Indian origin who presented with SMMCI in both primary and permanent dentitions. The association of HFM with SMMCI may be due to defective development of neural crest cells and/or lack of space in maxilla.

Related collections

Most cited references 35

Record: found
Abstract: found
Article: not found

The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.

E M Pierpont, K Imaizumi, Malcolm K. Jones … (1999)

Holoprosencephaly (HPE) is a common developmental anomaly of the human forebrain and midface where the cerebral hemispheres fail to separate into distinct left and right halves. We have previously reported haploinsufficiency for Sonic Hedgehog ( SHH ) as a cause for HPE. We have now performed mutational analysis of the complete coding region and intron-exon junctions of the SHH gene in 344 unrelated affected individuals. Herein, we describe 13 additional unrelated affected individuals with SHH mutations, including nonsense and missense mutations, deletions and an insertion. These mutations occur throughout the extent of the gene. No specific genotype-phenotype association is evident based on the correlation of the type or position of the mutations. In conjunction with our previous studies, we have identified a total of 23 mutations in 344 unrelated cases of HPE. They account for 14 cases of familial HPE and nine cases of sporadic HPE. Mutations in SHH were detected in 10 of 27 (37%) families showing autosomal dominant transmission of the HPE spectrum, based on structural anomalies. Interestingly, three of the patients with an SHH mutation also had abnormalities in another gene that is expressed during forebrain development. We suggest that the interactions of multiple gene products and/or environmental elements may determine the final phenotypic outcome for a given individual and that variations among these factors may cause the wide variability in the clinical features seen in HPE.

0 comments Cited 52 times – based on 0 reviews      Review now

Bookmark

Record: found
Abstract: found
Article: not found

SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature.

M Aldred, D. Hall, Tobi Ming … (2001)

Solitary median maxillary central incisor (SMMCI) or single central incisor is a rare dental anomaly. It has been reported in holoprosencephaly (HPE) cases with severe facial anomalies or as a microform in autosomal dominant HPE (ADHPE). In our review of the literature, we note that SMMCI may also occur as an isolated finding or in association with other systemic abnormalities. These anomalies include short stature, pituitary insufficiency, microcephaly, choanal atresia, midnasal stenosis, and congenital nasal pyriform aperture stenosis. SMMCI can also be a feature of recognized syndromes or associations or a finding in patients with specific chromosomal abnormalities. We performed a molecular study on a cohort of 13 SMMCI patients who did not have HPE. We studied two genes, Sonic Hedgehog (SHH) and SIX3, in which mutations have been reported in patients showing SMMCI as part of the HPE spectrum. A new missense mutation in SHH (I111F), segregating in one SMMCI family, was identified. Our results suggest that this mutation may be specific for the SMMCI phenotype since it has not been found in the HPE population or in normal controls. Published 2001 Wiley-Liss, Inc.

0 comments Cited 27 times – based on 0 reviews      Review now

Bookmark

Record: found
Abstract: found
Article: not found

Holoprosencephaly: a paradigm for the complex genetics of brain development.

E Roessler, M Muenke (1998)

Holoprosencephaly (HPE) is the most common major developmental defect of the forebrain in humans. Clinical expression is variable, ranging from a small brain with a single cerebral ventricle and cyclopia to clinically unaffected carriers in familial HPE. Significant aetiological heterogeneity exists in HPE and includes both genetic and environmental causes. Recently, defects in the cell signalling pathway involving the Sonic Hedgehog (SHH) gene, as well as defects in the cholesterol biosynthesis, have been shown to cause HPE in humans. These discoveries and current genetic approaches serve as a paradigm for studying normal and abnormal brain morphogenesis.

0 comments Cited 17 times – based on 0 reviews      Review now

Bookmark

All references

Author and article information

Journal

Journal ID (nlm-ta): Contemp Clin Dent

Journal ID (publisher-id): CCD

Title: Contemporary Clinical Dentistry

Publisher: Medknow Publications & Media Pvt Ltd (India )

ISSN (Print): 0976-237X

ISSN (Electronic): 0976-2361

Publication date (Print): Oct-Dec 2011

Volume: 2

Issue: 4

Pages: 385-389

Affiliations

[1] Unit of Orthodontics, Oral Health Sciences Centre, PGIMER, Chandigarh, India

Author notes

Correspondence: Dr. Ashok Utreja, Unit of Orthodontics, Oral Health Sciences Centre, PGIMER, Chandigarh – 160012, India. E-mail: ashokutreja@ 123456yahoo.com

Article

Publisher ID: CCD-2-385

DOI: 10.4103/0976-237X.91810

PMC ID: 3276874

PubMed ID: 22346174

SO-VID: ac41a86e-8fd3-4a98-814f-642fe1959f53

License:

This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Solitary median maxillary central incisor in association with hemifacial microsomia: A rare case report and review of literature

Read this article at

Abstract

Related collections

Arab Journal of Forensic Sciences & Forensic Medicine (AJFSFM)

Most cited references 35

The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.

SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature.

Holoprosencephaly: a paradigm for the complex genetics of brain development.

Author and article information

Journal

Affiliations

Author notes

Article

History

Categories

Comments

Comment on this article

Similar content 223

Cited by 3

Most referenced authors 244