Desbuquois Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q78.9 | Osteochondrodysplasia, unspecified |
| ICD-10 online (WHO version 2019) | |
The Desbuquois syndrome is an inherited skeletal dysplasia with skoliotischem dwarfism and überstreckbaren joints. It is named after G. Desbuquois from Tours who first described it in 1966 .
Synonyms are Desbuquois Dysplasia , Micromelic Dwarfism .
definition
Criteria are:
- severe short stature with scoliosis
- Muscle hypotension (decreased muscle tension)
- Hyperextensible joints, finger and radial head dislocation
- conspicuous face with microstomy , long philtrum
root cause
The disease, which belongs to the skeletal dysplasia, is inherited as an autosomal recessive trait; its frequency and cause are not known with certainty; a genetic change was found in region 17q25.3.
diagnosis
Short stature with shortened limbs can already be discovered in the womb.
Radiographically , there are signs of epimetaphyseal dysplasia with flattened and shortened femoral metaphyses , as well as abnormalities on the wrist , metacarpal and fingers.
Diagnostic clues are:
- Accelerated development of metacarpal bones
- characteristically deformed femoral heads
- Radial deviation of the index finger with an excess ossification center in the phalanx is considered sufficient for the diagnosis ( pathognomonic ), but does not occur regularly.
Differential diagnosis
The following are to be distinguished:
- Larsen syndrome due to the facial and skeletal changes
- Catel-Manzke syndrome due to normal body length
- Diastrophic dysplasia
- Pseudodiastrophic dysplasia
literature
- B. Leiber: The clinical syndromes. Syndromes, sequences and symptom complexes. Edited by G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger, 7th edition. Urban & Schwarzenberg 1990, ISBN 3-541-01727-9 .
- W. Pschyrembel, Clinical Dictionary. 265th edition. Verlag Walter de Gruyter, 2014, ISBN 978-3-11-018534-8 .
- AR Lloyd, KG Ragosta, CR Bryke, JJ Hoo: Desbuquois syndrome in three sisters with significantly different lengths of survival. In: American journal of medical genetics. Part A. Volume 140, Number 11, June 2006, pp. 1253-1255, ISSN 1552-4825 . doi : 10.1002 / ajmg.a.31232 . PMID 16642505 .
- G. Gillessen-Kaesbach, P. Meinecke, MG Ausems, M. Nöthen, B. Albrecht, FA Beemer, K. Zerres: Desbuquois syndrome: three further cases and review of the literature. In: Clinical dysmorphology. Volume 4, Number 2, April 1995, pp. 136-144, ISSN 0962-8827 . PMID 7606320 . (Review).
- M. Le Merrer, ID Young, V. Stanescu, P. Maroteaux: Desbuquois syndrome. In: European Journal of Pediatrics. Volume 150, Number 11, September 1991, pp. 793-796, ISSN 0340-6199 . PMID 1959544 .
