Tibial hemimelia

from Wikipedia, the free encyclopedia
Classification according to ICD-10
Q72.5 Longitudinal reduction defect of the tibia
Q72.8 Other reduction defects of the lower extremity (s)

Includes: congenital shortening of the lower extremity (s)

ICD-10 online (WHO version 2019)

A tibial hemimelia or a tibial longitudinal defect describes the congenital absence ( aplasia ) or the underdevelopment ( hypoplasia ) of the tibia . It can be isolated, but more often in connection with malformations on the medial foot and a varus position in the rear foot.

Synonyms are: tibial aplasia , tibial longitudinal hypoplasia , paraxial longitudinal hypoplasia ; Missing tibia , congenital aplasia and dysplasia of the tibia with intact fibula , longitudinal tibial meromelia .

Congenital tibial hemimelia type I.
Congenital Tibial Hemimelia Type II
Congenital Tibial Hemimelia Type III

frequency

This rare condition affects 1 in a million newborns.

etiology

The cause is not known, but genetic counseling is recommended as several hereditary cases have been described.

Classification

The classification according to Kalamchi and Dawe is commonly used for treatment :

  • Type I aplasia of the tibia, foot adducted, + possibly missing rays medial
  • Type II tibia only missing distally, articulation to the femur preserved
  • Type III dysplasia of the tibia distal with tibiofibular diastasis (misalignment of the ankle joint)

clinic

Only in 50% of the cases the foot is laid normally, mostly the medial rays of the foot are missing, the bone nuclei of the hindfoot are fused ( ankle bone # faulty systems )

More malformations occur more frequently. Amongst other things:

The tibial hemimelia can be part of malformation syndromes like Gollop-Wolfgang syndrome or tripartite thumb polysyndactyly syndrome .

Depending on the extent of the lack of the tibia near the knee joint, there is a knee flexion contracture and decreased activity of the thigh extensor muscles.

Diagnosis

The malformation can already be detected in the womb during an ultrasound examination ; the shortening and deformity of the lower leg is evident after birth. An x-ray can document the extent of the malformation as well as additional bony changes. By means of sonography , the cartilaginous structures and their position in relation to the joint can be reliably shown, which is essential for types II and III.

Differential diagnosis

Must be distinguished is the Eaton McKusick syndrome with multiple formations of the big toe and six-fingered hands, triphalangaealen thumb.

treatment

Treatment should take place at a pediatric orthopedic center as soon as possible and depends on the type of malformation:

  • Type I: Orthosis , with good thigh function, surgically placing the fibula under the femur bones (centralization) can be promising.
  • Type II: To stabilize the knee joint, connection of the distal part of the tibia to the fibula.
  • III type: Here, a functional ankle must be surgically created

See also

Individual evidence

  1. ↑ a b c F. Hefti: Pediatric orthopedics in practice . Springer 1998, ISBN 3-540-61480-X , p. 311.
  2. ↑ a b Tibial hemimelia. In: Orphanet (Rare Disease Database).
  3. ^ S. Schröder, P. Berdel, F. Niedthard: Registration of congenital limb malformations in Germany. 22nd annual meeting EPOS London April 3, 2003. In: Paper No1 Abstract book. P. 60.
  4. ^ FW Brown: The Brown operation for total hemimelia tibia. In: G. Aitken (Ed.): Selected lower limb anomalies. 1971, National Academy of Science, Washington, p. 20.
  5. ↑ a b Tibial defect. on: standbein-ev.com
  6. ↑ A. Kalamchi, RV Dawe: Congenital deficiency of the tibia. In: The Journal of bone and joint surgery. British volume. Volume 67, Number 4, August 1985, pp. 581-584, ISSN  0301-620X . PMID 4030854 .
  7. ^ O. Eberhardt, M. Langendörfer, FF Fernandez, T. Wirth: The clubfoot in tibial and fibular hemimelia. In: Z Orthop accident. 150, 2012, pp. 525-532. doi: 10.1055 / s-0032-1314997 . Epub 2012 Oct 17.
  8. ^ Tibial hemimelia. on: orpha.net
  9. ^ 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 .
  10. ↑ DD. Christini, EJ Levy, FA Facanha, SJ Kumar: Fibular transfer for congenital absence of the tibia. In: Journal of pediatric orthopedics. Volume 13, Number 3, 1993 May-Jun, pp. 378-381, ISSN  0271-6798 . PMID 8496376 . Christini, EJ Levy, FA Facanha, SJ Kumar: Fibular transfer for congenital absence of the tibia. In: Journal of pediatric orthopedics. Volume 13, Number 3, 1993 May-Jun, pp. 378-381, ISSN  0271-6798 . PMID 8496376 .
  11. ^ W. Blauth, P. Hippe: The surgical treatment of partial tibial deficiency and ankle diastasis. In: Prosthetics and orthotics international. Volume 15, Number 2, August 1991, pp. 127-130, ISSN  0309-3646 . PMID 1923714 .

Web links

literature

  • F. Fernandez-Palazzi, J. Bendahan, S. Rivas: Congenital deficiency of the tibia: a report on 22 cases. In: Journal of pediatric orthopedics. Part B. Volume 7, Number 4, October 1998, pp. 298-302, ISSN  1060-152X . PMID 9810529 . (Review).
  • F. Hefti: Defect malformations on the lower extremities. In: The orthopedist. Vol. 37, No. 4, April 2008, pp. 381-402, ISSN  0085-4530 . doi: 10.1007 / s00132-008-1250-4 . PMID 18379756 . (Review)