Mesomelic dysplasia type Kantaputra
| Classification according to ICD-10 | |
|---|---|
| Q78.8 | Other specified osteochondrodysplasias |
| ICD-10 online (WHO version 2019) | |
The mesomelic dysplasia type Kantaputra is a very rare congenital disease and belongs to the mesomelic dysplasias .
The name refers to the author of the first description from 1992 by the Thai doctor Piranit Nik Kantraputra and colleagues.
distribution
The frequency is unknown; the inheritance is autosomal dominant
root cause
The disease is based on mutations in the 2q24-q32 gene .
Diagnosis
Evidence can be provided prenatally by means of fine ultrasound .
Clinical manifestations
Clinical criteria are:
- Very short ulna
- curved radius
- Dumbbell-like shape of the humerus distal
- Increasing flexion contracture of the hand in the proximal finger joints
- Fixed plantar flexion of the feet with tiptoe walking
- the ventrally protruding fibula is a characteristic, as is a synostosis between the fibula and the calcaneus
- sometimes also a tarsal coalition
Differential diagnostics
The other forms of mesomelic dysplasia are to be distinguished, in particular the mesomelic dysplasia of the Verloes-David-Pfeiffer type .
literature
- PN Kantaputra: Thirteen-year-follow up report on mesomelic dysplasia, Kantaputra type (MDK), and comments on the paper of the second reported family of MDK by Shears et al. In: American journal of medical genetics. Part A. Vol. 128A, No. 1, July 2004, ISSN 1552-4825 , pp. 1-5, doi: 10.1002 / ajmg.a.20642 , PMID 15211646 .
- PN Kantaputra, E. Klopocki, BP Hennig, V. Praphanphoj, C. Le Caignec, B. Isidor, ML Kwee, DJ Shears, S. Mundlos: Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q. In: European journal of human genetics: EJHG. Vol. 18, No. 12, December 2010, ISSN 1476-5438 , pp. 1310-1314, doi: 10.1038 / ejhg.2010.116 , PMID 20648051 , PMC 3002849 (free full text).
Individual evidence
- ↑ PN Kantaputra, RJ Gorlin, LO Langer: Dominant mesomelic dysplasia, ankle, carpal, and tarsal synostosis type: a new autosomal dominant bone disorder. In: American journal of medical genetics. Vol. 44, No. 6, December 1992, ISSN 0148-7299 , pp. 730-737, doi: 10.1002 / ajmg.1320440606 , PMID 1481840 .
- ↑ a b Mesomelic dysplasia type Kantaputra. In: Orphanet (Rare Disease Database).
- ↑ MESOMELIC DYSPLASIA, KANTAPUTRA TYPE. In: Online Mendelian Inheritance in Man . (English)
- ↑ ML Kwee, JA van de Sluijs, JM van Vugt, LC Wijnaendts, JJ Gille: Mesomelic dysplasia, Kantaputra type: clinical report, prenatal diagnosis, no evidence for SHOX deletion / mutation. In: American journal of medical genetics. Part A. Vol. 128A, No. 4, August 2004, ISSN 1552-4825 , pp. 404-409, doi: 10.1002 / ajmg.a.30120 , PMID 15264287 .
