The solitary median maxillary central incisor (SMMCI) syndrome: Associations, prenatal diagnosis, and outcomes

Prenat Diagn. 2019 May;39(6):415-419. doi: 10.1002/pd.5451. Epub 2019 Apr 26.


Solitary median maxillary central incisor (SMMCI) syndrome is a complex disorder consisting of multiple, developmental defects involving midline structures of the head, which includes the cranial bones, the maxilla, and its container dentition (specifically the central incisor tooth germ), together with other midline structures of the body. SMMCI may appear as an isolated trait or in association with other midline developmental anomalies. We describe the case of a patient with SMMCI. He presented with a solitary median maxillary incisor, short stature, corpus callosum anomalies and a microform of holoprosencephaly (HPE), diabetes insipidus, and neurodevelopmental delay. The diagnosis was performed postnatally based on clinical features, radiological imaging, and a comprehensive genetic study. SMMCI can be diagnosed during the prenatal or neonatal periods or during infancy. Evaluation of the superior maxillary bone is important for prenatal diagnosis. Direct evaluation through bidimensional ultrasound or the use of multiplanar ultrasound or tridimensional reconstruction should be performed in cases of brain or face malformations. Early diagnosis can contribute to improved prenatal assessment and postnatal management.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / pathology
  • Anodontia / complications
  • Anodontia / diagnosis*
  • Anodontia / pathology
  • Female
  • Holoprosencephaly / complications
  • Holoprosencephaly / diagnosis
  • Holoprosencephaly / pathology
  • Humans
  • Incisor / abnormalities*
  • Incisor / pathology
  • Infant
  • Infant, Newborn
  • Male
  • Maxilla / abnormalities
  • Phenotype
  • Pregnancy
  • Prenatal Diagnosis*
  • Prognosis
  • Syndrome
  • Young Adult

Supplementary concepts

  • Single upper central incisor