Brachymetacarpy
The brachymetacarpy , also brachymetacarpy , (from ancient Greek βραχύς brachýs 'short', μετά meta , 'between' and κάρπος karpos , 'wrist', Latin metacarpium ) is an innate shortening of the metacarpal bones .
It is a form of brachyphalangia , even if no phalanx is actually shortened, and is classified as type E brachydactyly .
It can appear as a feature of various syndromes :
- Albright osteodystrophy
- Asphyxating thoracic dysplasia
- Beckwith-Wiedemann Syndrome (MC III & V)
- Biemond syndrome
- Cornelia de Lange Syndrome
- Geleophysical short stature
- Gorlin-Goltz Syndrome
- Homocystinuria
- Hypothyroidism
- Juvenile idiopathic arthritis
- Cat cry syndrome
- Larsen Syndrome
- Mesomelic dysplasia Verloes-David-Pfeiffer type
- Multiple cartilaginous exostoses
- Pseudohypoparathyroidism
- Pseudopseudohypoparathyroidism
- Ruvalcaba syndrome
- Tricho-rhino-phalangeal dysplasia (MC V)
- Turner Syndrome (MC III-V)
literature
- SA Temtamy, MS Aglan: Brachydactyly. In: Orphanet Journal of Rare Diseases. Volume 3. 2008, p. 15, doi: 10.1186 / 1750-1172-3-15 .
- GM Rayan, J. Upton III: Brachymetacarpia. In: Congenital Hand Anomalies and Associated Syndromes. 2014, Springer, ISBN 978-3-642-54610-5 , doi : 10.1007 / 978-3-642-54610-5_20
- A. Lam, AT Fragomen, SR Rozbruch: Metacarpal Lengthening in Adults With Brachymetacarpia. In: hand. [Electronic publication before printing] October 2017, doi: 10.1177 / 1558944717736859 , PMID 29086650 .
- SS Suresh, R. Abraham, P. Ravi: Isolated symmetrical brachymetacarpia of the thumb-case report. In: Hand , Volume 4, No. 4, December 2009, pp. 424-426, doi: 10.1007 / s11552-009-9185-8 , PMID 19319609 , PMC 2787216 (free full text).
Web links
Individual evidence
- ↑ 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 .
- ↑ F. Hefti: Pediatric Orthopedics in Practice . Springer 1998, ISBN 3-540-61480-X .
- ↑ K. Ebel, E. Willich, E. Richter (Eds.): Differentialdiagnostik in der Pediatric Radiologie. Volume I. Thieme 1995, p. 353, ISBN 3-13-128101-4 .