Solitary median maxillary central incisor, short stature, choanal atresia/midnasal stenosis (SMMCI) syndrome

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Abstract

This article describes a series of 21 consecutive cases, each involving a solitary median maxillary central incisor; the patients were seen in the Department of Dentistry or the Victorian Clinical Genetics Unit, Murdoch Institute, at the Royal Children's Hospital, Melbourne, from 1966 to 1997. The spectrum of anomalies and associated features present in these cases—solitary median maxillary central incisor, choanal atresia, and holoprosencephaly—is described, and the literature related to the features, including genetic studies in these conditions, is reviewed. We relate our findings in these cases to current knowledge of developmental embryology. It is hoped that the findings, together with our interpretation of them, will help to clarify understanding of solitary median maxillary central incisor syndrome. This syndrome was previously considered a simple midline defect of the dental lamina, but it is now recognized as a possible predictor of holoprosencephalies of varying degrees in the proband, in members of the proband's family, and in the family's descendants.

References (60)

  • H Arliss et al.

    Congenital nasal pyriform aperture stenosis: isolated anomaly vs. developmental field defect

    Arch Otolaryngol Head Neck Surg

    (1992)
  • PS Ellison et al.

    Conation of maxillary incisors

    Br Dent J

    (1970)
  • A Holm et al.

    Hypodontia of both primary and permanent central upper incisors: description of a case

    Odont Rev

    (1972)
  • EB Rappaport et al.

    Monosuperoincisivodontic dwarfism

    Birth Defects

    (1976)
  • M Vanelli et al.

    Incisive superieure unique et deficit en STH

    Archives of French Pediatrics

    (1997)
  • R Mathis et al.

    L'agénésie d'une incisive centrale superieure: anomalie isolée, on marqueur d'un trouble du dévelopment anté natal

    J Int Assoc Dent Child

    (1988)
  • S Bamba et al.

    Clinical evaluation of six patients with a single maxillary central incisor

    Japanese Journal of Pediatric Dentistry

    (1989)
  • L Dolan et al.

    18p- syndrome with a single central maxillary incisor

    J Med Genet

    (1981)
  • RA Pfeiffer

    Sporadische autosomale deficienz (45, XX,D2-18-) t (D2.18) bei einem 5-jährigen mädchen

    Helv Paediat Acta

    (1969)
  • M Masuno et al.

    Two unrelated cases of single maxillary incisor with 7q terminal deletion

    Japanese Journal of Human Genetics

    (1990)
  • RK Hall

    Paediatric orofacial medicine and pathology

  • PJ Walker et al.

    Congenital nasal pyriform aperture stenosis with a single central maxillary incisor

    Aust J Otolaryngol

    (1996)
  • MMJ Cohen

    An update on the holoprosencephalic disorders

    J Pediatr

    (1982)
  • RW Leech et al.

    Holoprosencephaly and related midline cerebral anomalies: a review

    J Child Neurol

    (1986)
  • H Hattori et al.

    Brief clinical report: single central maxillary incisor and holoprosencephaly

    Am J Med Genet

    (1987)
  • AR Simon et al.

    Solitary incisor syndrome and holoprosencephaly

    J Clin Pediatr Dent

    (1993)
  • HG Artman et al.

    Microphthalmia with a single central incisor and hypopituitarism

    J Med Genet

    (1990)
  • G Camera et al.

    Single maxillary central incisor and holoprosencephaly

    Pathologica

    (1992)
  • JG Hall et al.
  • M Muenke

    Linkage of a human malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity

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