Parastremmatic dysplasia

from Wikipedia, the free encyclopedia
Classification according to ICD-10
Q87.1 Congenital malformation syndromes that are predominantly associated with short stature
ICD-10 online (WHO version 2019)

The Parastremmatische dysplasia (from ancient Greek παραστρέμμα parastremma 'bent limbs', δυσ- dys 'miss' and πλάσσειν plassein 'form, shape') is a very rare congenital chondrodysplasia with the features dwarfism , kyphoscoliosis , stiffening of joints and bending of the lower extremities .

Synonym : Parastrematic short stature

The name was suggested by the authors of the first description from 1970 by the US radiologist Leonard O. Langer, the German orthopedic surgeon Dietrich Petersen and pediatrician Jürgen W. Spranger .

distribution

The frequency is given as less than 1 in 1,000,000, so far only five people have been reported. The inheritance is autosomal dominant .

root cause

Of the disease are mutations in TRPV4 - gene on chromosome 12 locus q24.11 based, which for the ion channel encoded protein Transient receptor potential cation channel subfamily V member. 4

Mutations in this gene can also be found (in order of the increasing severity of the changes) in:

Neuromuscular Diseases:

  • Charcot-Marie-Tooth disease type 2C (CMT2C)
  • Spinal Scapuloperoneal Muscular Atrophy (SPSMA)
  • Congenital benign spinal muscular atrophy, autosomal dominant form (CDSMA)

Skeletal Dysplasia :

Clinical manifestations

Clinical criteria are:

  • pronounced disproportionate short stature, adult height between 90 and 110 cm
  • Kyphoscoliosis, considerable deformation of the long tubular bones, knee misalignments (genua vara and / or genua valga)
  • multiple joint dislocations
  • normal skull

diagnosis

In the radiograph, platyspondyly , small iliac blades , characteristic flaky mineralization foci in the epiphyses , metaphyses and in the iliac crest.

literature

  • F. Horan, P. Beighton: Parastremmatic dwarfism. In: The Journal of bone and joint surgery. British volume. Vol. 58, No. 3, August 1976, pp. 343-346, PMID 956253 .
  • JA Sensenbrenner, JP Dorst, DS Hungerford: Parastremmatic dwarfism. In: Birth defects original article series. Vol. 10, No. 12, 1974, pp. 424-429, PMID 4461074 .

Individual evidence

  1. ↑ a b short stature, parastrematic. In: Orphanet (Rare Disease Database).
  2. ↑ a b c 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 .
  3. ^ LO Langer, D. Petersen, J. Spranger: An unusual bone dysplasia: parastremmatic dwarfism. In: The American journal of roentgenology, radium therapy, and nuclear medicine. Vol. 110, No. 3, November 1970, pp. 550-560, PMID 4992387 .
  4. ↑ Parastremmatic dwarfism.  In: Online Mendelian Inheritance in Man . (English)
  5. ↑ A. Schindler, Ch.Sumner, JE Hoover-Fong: In: TRPV4-Associated Disorders. GeneReviews
  6. ↑ Muscular atrophy, scapuloperoneal spinal. In: Orphanet (Rare Disease Database).
  7. ↑ Congenital benign spinal muscular atrophy, autosomal dominant form. In: Orphanet (Rare Disease Database).
  8. ^ Arthropathy, digital - brachydactyly, familial form. In: Orphanet (Rare Disease Database).

Web links