Spondylometaphyseal dysplasia Koslowski type

from Wikipedia, the free encyclopedia
Classification according to ICD-10
Q77.8 Other osteochondrodysplasias with growth disorders of the long bones and the spine
ICD-10 online (WHO version 2019)

The spondylometaphyseal dysplasia type Koslowski ( English "Kozlowski" written) is a congenital developmental disorder of the skeleton, which manifests itself mainly in the vertebral bodies and metaphyses. It is the most common form of spondylometaphyseal dysplasia .

Synonyms are: Koslowski-Maroteaux-Spranger syndrome ( English Kozlowski's spondylometaphyseal dysplasia syndrome , Koslowsky's type of chondrodysplasia )

Rö-image of a 7 y. Girl with spondylometaphyseal dysplasia Koslowski type with deformed femoral metaphyses and moderate platyspondyly

The name refers to the authors of the first description from 1966 by the Polish pediatric radiologist Kazimierz Koslowski , the Paris pediatrician and geneticist Pierre Maroteaux and the Mainz pediatrician Jürgen Spranger .

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal dominant .

root cause

The disease is based on mutations in the TRPV4 gene .

Clinical manifestations

Clinical criteria are:

  • Disproportionate short stature with a short trunk, the adult size is less than 140 cm
  • Striking waddling gait pattern in infancy
  • Kyphosis and scoliosis

diagnosis

The x-ray shows a generalized platyspondyly , the shortened tubular bones show a deformity of the metaphysis mainly on the femoral neck and the trochanters , often there is a coxa vara .

literature

  • G. Nishimura, J. Dai, E. Lausch, S. Unger, A. Megarbané, H. Kitoh, OH Kim, TJ Cho, F. Bedeschi, F. Benedicenti, R. Mendoza-Londono, M. Silengo, M. Schmidt-Rimpler, J. Spranger, B. Zabel, S. Ikegawa, A. Superti-Furga: Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations. In: American journal of medical genetics. Part A. Vol. 152A, No. 6, June 2010, pp. 1443-1449, ISSN  1552-4833 . doi: 10.1002 / ajmg.a.33414 . PMID 20503319 .
  • P. Maroteaux, J. Spranger: The spondylometaphyseal dysplasias. A tentative classification. In: Pediatric radiology. Vol. 21, No. 4, 1991, pp. 293-297, ISSN  0301-0449 . PMID 1870931 .
  • K. Koslowski, FA Beemer, G. Bens, et al .: Spondylometaphyseal dysplasia: report of 7 cases and assay of classification. In: CJ Papadatos, CS Bartsocas (editors): Skeletal Dysplasias. New York, Alan R. Liss, 1982.
  • PG Piffaretti, H. Delgado, D. Nussle: La dysostose spondylo-metaphysaire de Kozlowski, Maroteaux et Spranger. In: Annales de radiologie. Vol. 13, No. 5, 1970, pp. 405-417, ISSN  0003-4185 . PMID 4987883 .
  • HJ Refior: For spondylo-metaphyseal dysostosis (Kozlowski-Maroteaux-Spranger type). In: Archives for Orthopedic and Trauma Surgery. Vol. 66, No. 4, 1969, pp. 334-346, ISSN  0003-9330 . PMID 4981286 .

Individual evidence

  1. ↑ a b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
  2. ↑ Who named it
  3. ↑ K. Koslowski, P. Maroteaux, J. Spranger: La dysostose spondylométaphysaire. In: La presse médicale , Paris, 1967, vol. 75, pp. 2769-2774.
  4. ↑ a b Spondylometaphyseal dysplasia Koslowski type. In: Orphanet (Rare Disease Database).

Web links