Pseudodiastrophic dysplasia
| Classification according to ICD-10 | |
|---|---|
| Q78.8 | Other specified osteochondrodysplasias |
| ICD-10 online (WHO version 2019) | |
The Burgio syndrome or Pseudodiastrophische dysplasia is a very rare dysplasie consisting of rhizomelic shortening of the extremities , severe club foot deformities, dislocations of the elbow and the finger means joints , Platt vortex and scoliosis .
The inheritance is done autosomal - recessive , the incidence is estimated to be less than 1 to 1 million.
The disease is named after the first person who described it in 1974, the Sicilian pediatrician Giuseppe Roberto Burgio .
diagnosis
Clinically characteristic are:
- short stature with a short neck
- Clubfoot
- Contractures
- Dislocations of the elbows and fingers.
There may also be a cleft palate and other facial abnormalities.
The X-ray also shows flat vertebrae and scoliosis .
Differential diagnosis
Must be distinguished is the diastrophic dysplasia .
therapy
There is no causal treatment; clubfoot, contractures and scoliosis can be tackled symptomatically.
Mortality in the first few years of life is described as high.
literature
- DJ Eteson, G. Beluffi, GR Burgio, C. Belloni, RS Lachman, DL Rimoin: Pseudodiastrophic dysplasia: a distinct newborn skeletal dysplasia. In: The Journal of pediatrics. Volume 109, Number 4, October 1986, pp. 635-641, ISSN 0022-3476 . PMID 3761077 .
Individual evidence
- ↑ Jürgen Kunze: Wiedemann's Atlas of Clinical Syndromes: Phenomenology, Etiology, Differential Diagnosis; with 10 tables . Schattauer Verlag, 2010, ISBN 978-3-7945-2657-4 , p. 890–.
- ^ W. Pschyrembel: Clinical dictionary. 265th edition. Verlag Walter de Gruyter, 2014, ISBN 978-3-11-018534-8 .
- ↑ a b c d Orphanet
- ^ GR Burgio, C. Belloni, G. Beluffi: Nanisme pseudodiastrophique: etude de deux soeurs nouveau-nees. In: Archives françaises de pédiatrie. Volume 31, Number 7, 1974 Aug-Sep, pp. 681-696, ISSN 0003-9764 . PMID 4217148 .
- ↑ a b Who named it
