Brachyolmia and amelogenesis imperfecta

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Classification according to ICD-10
Q76.3 Congenital scoliosis caused by congenital bone malformation
ICD-10 online (WHO version 2019)

Brachyolmia and amelogenesis imperfecta is a very rare congenital disease ( syndrome ) with a combination of brachyolmia ( skeletal dysplasia with exclusively involvement of the spine and a short trunk ) and amelogenesis imperfecta (disruption of the formation of tooth enamel ).

Synonyms are: Platyspondyly - Amelogenesis imperfecta; Verloes-Bourguignon Syndrome; VBS; english Dental anomalies and short stature

The name refers to the main authors of the first description from 1996 by the Belgian human geneticist Alain Verloes and radiologist Jean-Pierre Bourguignon.

distribution

The frequency is not known.

root cause

The disease are mutations in LTBP3 - gene on chromosome 11 locus q13.1 based on which a for the growth hormone -needed protein coded.

Mutations in this gene can also be found in geophysical short stature .

Clinical manifestations

Clinical criteria are:

diagnosis

The diagnosis arises from the combination of clinical findings.

therapy

Only symptomatic therapy is possible.

literature

  • M. Huckert, C. Stoetzel, S. Morkmued, V. Laugel-Haushalter, V. Geoffroy, J. Muller, F. Clauss, MK Prasad, F. Obry, JL Raymond, M. Switala, Y. Alembik, S. Soskin, E. Mathieu, J. Hemmerlé, JL Weickert, BB Dabovic, DB Rifkin, A. Dheedene, E. Boudin, O. Caluseriu, MC Cholette, R. Mcleod, R. Antequera, MP Gellé, JL Coeuriot, LF Jacquelin , I. Bailleul-Forestier, MC Manière, W. Van Hul, D. Bertola, P. Dollé, A. Verloes, G. Mortier, H. Dollfus, A. Bloch-Zupan: Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta. In: Human Molecular Genetics . Volume 24, number 11, June 2015, pp. 3038–3049, doi: 10.1093 / hmg / ddv053 , PMID 25669657 , PMC 4424950 (free full text).
  • DR Bertola, R. Antequera, MJ Rodovalho, RS Honjo, LM Albano, IM Furquim, LA Oliveira, CA Kim: Brachyolmia with amelogenesis imperfecta: further evidence of a distinct entity. In: American journal of medical genetics. Part A. Volume 149A, number 3, March 2009, pp. 532-534, doi: 10.1002 / ajmg.a.32661 , PMID 19213025 .

Individual evidence

  1. ↑ a b c Brachyolmia - Amelogenesis imperfecta. In: Orphanet (Rare Disease Database).
  2. ↑ A. Verloes, P. Jamblin, L. Koulischer, JP Bourguignon: A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly. In: Clinical genetics. Volume 49, Number 1, January 1996, pp. 2-5, PMID 8721563 .
  3. ^ Dental anomalies and short stature.  In: Online Mendelian Inheritance in Man . (English)

Web links