Fibular hemimelia

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Classification according to ICD-10
Q72.6 Longitudinal reduction defect of the fibula
Q72.8 Other reduction defects of the lower extremity (s)

Includes: congenital shortening of the lower extremity (s)

ICD-10 online (WHO version 2019)
Type II fibular hemimelia in an 18 month old child

A fibular hemimelia or fibulärer longitudinal defect is congenital absence ( aplasia ) or underdevelopment ( hypoplasia ) of the fibula (fibula). It can occur in isolation, but more often in connection with malformations of the thigh bone ( proximal femur defect ), malformations of the foot lateral and with a shortening of the entire lower leg. The much rarer congenital absence of the shin is known as tibial hemimelia .

Synonyms are: fibular aplasia , fibular longitudinal hypoplasia , paraxial longitudinal hypoplasia ; fibular longitudinal meromelia , congenital longitudinal reduction defect of the fibula .

frequency

This rare condition affects 3 in 100,000 newborns. The male sex is said to be affected twice as often as the female. Only one leg is affected in two thirds of patients, the right more often.

root cause

The cause is not yet known. Family accumulation occurs.

Classification

The classification according to Achtermann and Kalamchi is relevant for treatment :

  • Type IA hypoplasia of the fibula proximal, ankle joint intact
  • Type IB as IA, but with a malformation of the ankle joint
  • Type II Complete aplasia of the fibula

clinic

Functionally in the foreground is the leg shortening, which increases in the course of growth. The foot is almost always involved, there is often an articulated and equinus foot position, only the medial rays of the foot are applied, parts of the rear foot may be missing or are fused ( tarsal coalition ).

Very often the whole lower leg is hypoplastic. Two thirds of the patients also have femoral hypoplasia, mostly an underdevelopment of the lateral femoral condyle .

Not infrequently, is situated in the ankle a Kugeltalus a Kugelgelenkdeformität, English "ball-in-socket" -hinge ago with disturbed joint mechanics.

Associated malformations can be: proximal femoral defect , craniosynostosis , malformations of the toes. A fibular hemimelia can occur in connection with skeletal dysplasias and dysostoses , for example in the context of the femur-fibula-ulna syndrome .

Diagnosis

The malformation can already be detected in the womb during an ultrasound examination ; the shortening and curvature are obvious after birth. An x-ray can document the extent of the malformation as well as additional bony changes.

Differential diagnosis

The amniotic ligament syndrome , thalidomide embryopathy , the Fuhrmann syndrome and further skeletal dysplasias and dysostoses with asymmetrical involvement of the lower limbs are to be distinguished.

treatment

Treatment should be given at a pediatric orthopedic center as soon as possible . The spectrum of treatment options ranges from orthotics , prostheses , conversion osteotomies , surgical leg lengthening to amputation . The lower the classification, the more likely leg preservation and good functionality can be expected.

See also

Individual evidence

  1. ↑ a b c F. Hefti: Pediatric orthopedics in practice . Springer, 1998, ISBN 3-540-61480-X , p. 308.
  2. ↑ a b c d e Fibular 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 3.4.20903. Paper No1 Abstract book, p. 60.
  4. ^ AK Gupta, M. Berry, IC Verma: Congenital absence of both fibulae in four siblings. In: Pediatric radiology. Volume 24, Number 3, 1994, pp. 220-221, ISSN  0301-0449 . PMID 7936806 .
  5. ↑ C. Achterman, A. Kalamchi: Congenital deficiency of the fibula. In: The Journal of bone and joint surgery. British volume. Volume 61-B, Number 2, May 1979, pp. 133-137, ISSN  0301-620X . PMID 438260 .
  6. ↑ AM Pappas: Congenital abnormalities of the femur and related lower extremity malformations: classification and treatment. In: Journal of pediatric orthopedics. Volume 3, Number 1, February 1983, pp. 45-60, ISSN  0271-6798 . PMID 6841603 .
  7. ^ A. Rodriguez-Ramirez, MM Thacker, LC Becerra, EC Riddle, WG Mackenzie: Limb length discrepancy and congenital limb anomalies in fibular hemimelia. In: Journal of pediatric orthopedics. Part B. Volume 19, Number 5, September 2010, pp. 436-440, ISSN  1473-5865 . doi: 10.1097 / BPB.0b013e32832d5d7d . PMID 20498623 .
  8. ^ S. Parada: Congenital absence of fibula, 2001, in: TheFetus.net
  9. ^ J. Serafin: A new operation for congenital absence of the fibula. Preliminary report. In: The Journal of bone and joint surgery. British volume. Volume 49, Number 1, February 1967, pp. 59-65, ISSN  0301-620X . PMID 6019388 .

Web links

literature

  • J. Prévot, P. Dalat-Leneveu, E. Leneveu, P. Lascombes: Hémimélie péronière congénitale. In: surgery; mémoires de l'Académie de surgery. Volume 120, Number 5, 1994-1995, pp. 293-297, ISSN  0001-4001 . PMID 7743850 .
  • F. Hefti: Defect malformations on the lower extremities. In: The orthopedist. Volume 37, Number 4, April 2008, pp. 381-402, ISSN  0085-4530 . doi: 10.1007 / s00132-008-1250-4 . PMID 18379756 . (Review)

Known Data Subjects