Syndrome of the single maxillary central incisor

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Classification according to ICD-10
K00.2 Abnormalities in the size and shape of the teeth
K07.8 Other dentofacial abnormalities
ICD-10 online (WHO version 2019)

The syndrome of the single maxillary central incisor (SMMCI syndrome) is a very rare congenital disease with main characteristics S olitärer (single) M edianer (in the midline) M axillary (in the maxilla) C entraler (in the center) I nzisor ( incisor ) , Acronym SMMCI.

Synonyms are: SMMCI; Incisor, central upper single

The first description is from 1997 by the Australian pediatrician Roger K. Hall and colleagues.

distribution

The frequency is given as 1 in 50,000 live births, inheritance is autosomal dominant .

root cause

The disease are (possibly) (missense) mutations in the SHH - gene on chromosome 7 locus q36.3 basis that the protein Sonic hedgehog coded.

Hitherto unknown factors during embryonic development between the ages of 35 and 38 can also be the cause . Be development day.

Clinical manifestations

Clinical criteria are:

Associated malformations are:

less common:

diagnosis

The diagnosis can be made with the appearance of the upper incisors, but also prenatally by means of fine ultrasound .

literature

  • R. Garcia Rodriguez, L. Garcia Cruz, Y. Novoa Medina, R. Garcia Delgado, J. Perez Gonzalez, C. Palma Milla, J. Lopez Siles, M. Medina Castellano, JA Garcia Hernandez, A. Santana Rodriguez: The solitary median maxillary central incisor (SMMCI) syndrome: Associations, prenatal diagnosis, and outcomes. In: Prenatal diagnosis. Volume 39, number 6, 05 2019, pp. 415-419, doi: 10.1002 / pd.5451 , PMID 30900264 (review).
  • NN Lygidakis, K. Chatzidimitriou, N. Petrou, NA Lygidakis: Solitary median maxillary central incisor syndrome (SMMCI) with congenital nasal puriform aperture stenosis: literature review and case report with comprehensive dental treatment and 14 years follow-up. In: European archives of pediatric dentistry: official journal of the European Academy of Pediatric Dentistry. Volume 14, Number 6, December 2013, pp. 417-423, doi: 10.1007 / s40368-013-0044-5 , PMID 23775592 (review).
  • F. Tabatabaie, L. Sonnesen, I. Kjaer: The neurocranial and craniofacial morphology in children with solitary median maxillary central incisor (SMMCI). In: Orthodontics & craniofacial research. Volume 11, Number 2, May 2008, pp. 96-104, doi: 10.1111 / j.1601-6343.2007.00419.x , PMID 18416751 .

Individual evidence

  1. ↑ a b c d e R. K. Hall: Solitary median maxillary central incisor (SMMCI) syndrome. In: Orphanet journal of rare diseases. Volume 1, April 2006, p. 12, doi: 10.1186 / 1750-1172-1-12 , PMID 16722608 , PMC 1464380 (free full text) (review).
  2. ^ RK Hall, A. Bankier, MJ Aldred, K. Kan, JO Lucas, AG Perks: Solitary median maxillary central incisor, short stature, choanal atresia / midnasal stenosis (SMMCI) syndrome. In: Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics. Volume 84, Number 6, December 1997, pp. 651-662, doi: 10.1016 / s1079-2104 (97) 90368-1 , PMID 9431535 (review).
  3. ↑ Single median maxillary central incisor.  In: Online Mendelian Inheritance in Man . (English)

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