Acrodysostosis
| Classification according to ICD-10 | |
|---|---|
| Q75.4 | Mandibulofacial dysostosis |
| ICD-10 online (WHO version 2019) | |
The Acrodysostosis is a very rare congenital developmental disorder with mental retardation and reduction of hand and foot bones.
Synonyms are: acrodysostosis syndrome , acrodysplasia , Arkless-Graham syndrome , Maroteaux-Malamut syndrome or PMN syndrome .
It was first described in 1968 by Pierre Maroteaux and colleagues.
The inheritance is autosomal dominant .
clinic
Growth retardation can already be noticed in the womb .
Clinically, the disease is characterized by a typical round face with nasal hypoplasia, hypoplastic upper jaw, epicanthus , hypertelorism together with mental retardation, short stature , short hands and feet as well as hearing impairment.
diagnosis
In the X-ray image , a place hypoplasia of the maxilla, dysplasia of the extremities with shortened and widened metacarpal bones, in the phalanges of premature closure of the growth plates relatively long and wide dysproportional big toe and, cone-shaped or Konusepiphysen in elementary and middle phalanx. Skeletal development in the hand appears to be accelerated with accelerated skeletal age . Spinal canal stenosis is found in 75% . Pronounced punctiform calcifications can occur in the epiphyses .
Differential diagnosis
The Albright osteodystrophy must be differentiated .
Individual evidence
- ^ 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
- ↑ a b c Orphanet .
- ↑ a b c W. Pschyrembel: Clinical dictionary. Verlag Walter de Gruyter, 265th edition (2014) ISBN 3-11-018534-2
- ↑ P. Maroteaux, G. Malamut: L'acrodysostose. In: La Presse médicale. Volume 76, Number 46, November 1968, pp. 2189-2192, ISSN 0032-7867 . PMID 5305130 .
- ↑ a b c J. W. Spranger: Bone Dysplasias , Urban & Fischer 2002, ISBN 3-437-21430-6
