Van Bogaert-Hozay syndrome
| Classification according to ICD-10 | |
|---|---|
| M89.5 | Osteolysis |
| ICD-10 online (WHO version 2019) | |
The Van Bogaert-Hozay syndrome is a very rare congenital disease with the main features of an acro-osteolysis , facial dysmorphia and mental retardation .
Synonyms are: hereditary idiopathic osteolysis type III Hozay; English Hozay’s syndrome; Acro-osteolysis-facial dysplasia syndrome
The name refers to the author of the first description from 1953 by the Belgian neurologist Jean Hozay and at the same time by the Belgian neuropathologist Ludo van Bogaert (1897–1989).
distribution
The frequency is not known, the inheritance is done autosomal - recessive .
Clinical manifestations
Clinical criteria are:
- Onset of illness in early childhood
- Curvature of the terminal phalanges, progressive osteolysis with the disappearance of the terminal and middle phalanges up to amputation-like changes, contractures of the finger joints, possibly also of the wrist and elbow joint
- Hypoplasia of the ulna near the wrist
- Short stature
- Facial abnormalities such as wide face, flat nose, auricular deformities, accentuated zygomatic arch , hypertelorism , micrognathia
- Eye abnormalities such as hypoplasia of the eyelashes and eyebrows , ptosis , astigmatism and myopia
- Skin atrophy with ulceration over the osteolyses, partly also on the face
- Debility
Differential diagnosis
Other forms of hereditary acroosteolysis are to be distinguished .
literature
- A. Al Kaissi, S. Scholl-Buergi, R. Biedermann, K. Maurer, JG Hofstaetter, K. Klaushofer, F. Grill: The diagnosis and management of patients with idiopathic osteolysis. In: Pediatric rheumatology online journal , Volume 9, October 2011, p. 31, doi: 10.1186 / 1546-0096-9-31 , PMID 21995273 , PMC 3203843 (free full text).
- P. Petit, JP Fryns: Distal osteolysis, short stature, mental retardation, and characteristic facial appearance: delineation of an autosomal recessive subtype of essential osteolysis. In: American journal of medical genetics. Volume 25, Number 3, November 1986, pp. 537-541, doi: 10.1002 / ajmg.1320250316 , PMID 3789013 . 1986
- K. Kozlowski, A. Barylak, F. Eftekhari, K. Pasyk, E. Wislocka: Acroosteolysis. Problems of diagnosis - report of four cases. In: Pediatric radiology. Volume 8, Number 2, April 1979, pp. 79-86, PMID 450491 .
Individual evidence
- ↑ 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 .
- ↑ a b Who named it
- ↑ J. Hozay: Sur une dystrophie familiale particuliere (inhibition precoce de la croissance et osteolyse non-mutilante acrales avec dysmorphie faciale). In: Revue neurologique. Volume 89, Number 4, 1953, pp. 245-258, PMID 13167893 .
- ↑ L. van Bogaert: Essai de classement et d'interprétation de quelques acro-ostéolyses mutilantes et non mutilantes actuellement connues. In: Acta neurologica et psychiatrica Belgica , 1953, volume 53, pp. 90-115.
