Mesomelic dysplasia type Reinhardt-Pfeiffer

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Classification according to ICD-10
Q78.8 Other specified osteochondrodysplasias
ICD-10 online (WHO version 2019)

The mesomelic dysplasia type Reinhardt-Pfeiffer or mesomelic short stature type Reinhardt-Pfeiffer is a very rare congenital disease with disproportionate short stature and shortening of the ulna and fibula .

The name refers to the authors of the first description from 1967 under the name Ulno-fibular Dysplasia by the German radiologist Kurt Reinhardt (1920-) and the human geneticist Rudolf A. Pfeiffer (1931-).

distribution

The frequency is unknown; only a few patients have been described to date. The inheritance is autosomal dominant . Girls are said to be affected more often than boys. Apparently there is an association with mesomelic dysplasia of the Langer type and with Léri Weill's dyschondrosteosis .

root cause

The etiology is unknown.

Clinical manifestations

Clinical criteria of the mesomelic dysplasia associated with skeletal dysplasia are:

  • Shortening of the ulna and fibula
  • moderately pronounced Mesomelic stature , adult height 150 - 169 cm
  • Shortening of the forearm with ulnar deviation of the hand and limited supination and pronation
  • Shortening of the lower leg with an outward curvature of the fibula

diagnosis

The X-ray image shows:

  • distal ulnar shortening, dislocation of the radial head
  • moderate shortening and clumping of the tibia
  • proximal hypoplasia of the fibula

Differential diagnosis

The mesomelic dysplasia type Langer and the mesomelic dysplasia type Nievergelt , in which the tibia is more severely affected and synostoses are also present, must be differentiated from the differential diagnosis .

literature

  • M. Bhatia, B. Joseph: A variant of Reinhardt-Pfeiffer mesomelic skeletal dysplasia. In: Pediatric radiology. Vol. 30, No. 3, March 2000, ISSN  0301-0449 , pp. 184-185, doi : 10.1007 / s002470050042 , PMID 10755759 .
  • A. Toutain, D. Sirinelli, C. Paillet, C. Bonnard, G. Body, P. Maroteaux, C. Moraine: Dysplasia mésomélique de Reinhardt-Pfeiffer ou dyschondrostéose? La distinction est-elle fondée? A propos d'une observation familiale avec variabilité d'expression. In: Annales de pédiatrie. Vol. 38, No. 1, January 1991, ISSN  0066-2097 , pp. 37-45, PMID 2006832 .

Individual evidence

  1. ↑ a b c mesomelic dysplasia type Reinhardt-Pfeiffer. In: Orphanet (Rare Disease Database).
  2. ↑ a b c d 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. ↑ K. Reinhardt, RA Pfeiffer: Ulno-fibular dysplasia. An autosomal dominant inherited microsomelia similar to Nievergelt syndrome. In: Advances in the field of X-rays and nuclear medicine , 1967, Vol. 107, pp. 379-391
  4. ↑ a b c Who named it

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