Odontoid chondrodysplasia
| Classification according to ICD-10 | |
|---|---|
| Q78.8 | Other specified osteochondrodysplasias |
| ICD-10 online (WHO version 2019) | |
The Odonto-chondrodysplasia ODCD is a very rare congenital skeletal dysplasia with main characteristics chondrodysplasia , dentinogenesis imperfecta and joint laxity.
Synonyms are: Goldblatt syndrome , Wallis-Zieff-Goldblatt syndrome , Goldblatt chondrodysplasia and odontochondrodysplasia .
The name refers to the first author of the first description from 1991 by the Australian human geneticist Jack Goldblatt and colleagues.
distribution
The frequency is given as less than 1 in 1,000,000, the inheritance is probably autosomal - recessive , the cause is not yet known.
Clinical manifestations
Clinical criteria are:
- Incorrect development and structural disturbance in tooth development
- Mesomelic shortened extremities
- short trunk
- Sagging joints
- Brachydactyly
Diagnosis
In the X-ray image , typical changes are:
- Platyspondyly with clefts in the frontal plane , scoliosis
- Brachydactyly
- Coxa valga
- narrow rib thorax
- metaphyseal changes in shape of the hand , wrist and knee joints
Differential diagnostics
The following are to be distinguished:
- Sedaghatian type spondylometaphyseal dysplasia
- Torrance platyspondylitic dysplasia
literature
- F. Inchingolo, C. Derla, A. Pacifici, R. Cagiano, M. Gargari, M. Marrelli, M. Amantea, AM Inchingolo, G. Dipalma, L. Signorini, L. Pacifici, M. Tatullo: Dental and maxillofacial Alterations in patients affected from odontochondrodysplasia: a rare case report and review of literature. In: Oral health and dental management. Vol. 13, No. 3, September 2014, pp. 614-618, PMID 25284522 .
- P. Maroteaux, V. Briscioli, F. Lalatta, J. Bonaventure: Odontochondrodysplasia. In: Archives de pédiatrie: organe officiel de la Sociéte française de pédiatrie. Vol. 3, No. 6, June 1996, pp. 549-554, PMID 8881299 .
Individual evidence
- ↑ a b c Goldblatt Syndrome. In: Orphanet (Rare Disease Database).
- Jump up ↑ J. Goldblatt, P. Carman, P. Sprague: Unique dwarfing, spondylometaphyseal skeletal dysplasia, with joint laxity and dentinogenesis imperfecta. In: American journal of medical genetics. Vol. 39, No. 2, May 1991, pp. 170-172, doi: 10.1002 / ajmg.1320390211 , PMID 2063920 .
- ↑ SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA. In: Online Mendelian Inheritance in Man . (English)
- ↑ a b S. Unger, F. Antoniazzi, M. Brugnara, Y. Alanay, A. Caglayan, K. Lachlan, S. Ikegawa, G. Nishimura, B. Zabel, J. Spranger, A. Superti-Furga: Clinical and radiographic delineation of odontochondrodysplasia. In: American journal of medical genetics. Part A. Vol. 146A, No. 6, March 2008, pp. 770-778, doi: 10.1002 / ajmg.a.32214 , PMID 18241073 .
