1. CONGENITAL ANOMALIES DEVELOPMENTAL DISORDERS AND DYSPLASIAS
Melih Güven, M.D
Assoc. Prof.
Yeditepe University Hospital
Department of Orthopaedics and Traumatology
Istanbul

2. Congenital Anomalies
Physical variations those disorganize physical appearance and function
Can be
in a single part of extremity
in one extremity
multiple
combined with severeal anomalies

3. Congenital Anomalies Etiology Genetic Non-genetic
Single gene pathology
Multiple genes pathologies
Chromosomal anomalies
Non-genetic
Teratogenic
İdiopathic

4. Congenital Anomalies Classification
Interruption of development (Facomelia, Aphalangea)
Separation deficit
Duplication
Overgrowth
Hypoplasia
Constructive band syndrome
Generalized skeletal anomalies

5. Congenital Anomalies Classification Interruption of development
Separation deficit (Syndactyly)
Duplication
Overgrowth
Hypoplasia
Constructive band syndrome
Generalized skeletal anomalies

6. Congenital Anomalies Classification Interruption of development
Separation deficit
Duplication (Polydactyly)
Overgrowth
Hypoplasia
Constructive band syndrome
Generalized skeletal anomalies

7. Congenital Anomalies Classification Interruption of development
Separation deficit
Duplication
Overgrowth (Macrodactyly)
Hypoplasia
Constructive band syndrome
Generalized skeletal anomalies

8. Congenital Anomalies Classification Interruption of development
Separation deficit
Duplication
Overgrowth
Hypoplasia (Phalangeal hypoplasia)
Constructive band syndrome
Generalized skeletal anomalies

9. Congenital Anomalies Classification Interruption of development
Separation deficit
Duplication
Overgrowth
Hypoplasia
Constructive band syndrome
Generalized skeletal anomalies

10. Congenital Anomalies Classification Interruption of development
Separation deficit
Duplication
Overgrowth
Hypoplasia
Constructive band syndrome
Generalized skeletal anomalies (Arthrogryposis multiplex congenita)

11. Congenital Anomalies Treatment Controversies about timing of treatment
Before the recognition of upper extremity
Before walking for the lower extremity
Treatment modalities
Reconstructions (esp. in upper extr.)
Deformity correction and extremity lengthening
Amputations

12. Torticollis Sternocleidomastoid (SCM) muscle spasm or contracture
Congenital or acquired
Association with DDH
Before 1st year of life – conservative
After 1st year – surgical release

13. Radial Club Hand Partial or total absence of radius
Associated congenital cardiac pathologies, abdominal pathologies and haematologic diseases
Surgical reconstruction after 6 months of age

14. Madelung Deformity Unknown etiology (may be developmental)
Undergrowth of distal radial epiphysis
Ulnar deviation of the wrist
Corrective osteotomies and reconstruction

15. Syndactyly Partial – Total Simple – Complex Surgery for hands
Observation for foot

16. Polydactyly Preaxial, postaxial, central
Surgery for both hands and feet

17. Macrodactyly
Can be associated with vascular anomalies or neurofibromatosis
Severe functional and cosmetic problems
Reconstruction or amputation

18. Cleft Hand – Cleft Foot Absence of central ray of hand or foot
Reconstructive surgeries

19. Trigger Finger Developmental Frequently in thumb
Surgical release of A1 pulley

20. Lower extremity long bone deficiencies
Proximal focal femoral deficiency
Tibial hemimelia
Fibular hemimelia

21. Clubfoot (Pes Equinovarus)
Most common congenital foot deformity
Early diagnosis and treatment are very important
Conservative treatment – GOLD standard
Corrective manipulation and serial casting

22. Vertical Talus Rigid pes planovalgus Can be associated with syndromes
Surgical correction in early ages is necessary

23. Postural Foot Deformities
Metatarsus adductus
Calcaneovalgus

24. Others… Constructive band syndrome Arthrogryposis multiplex congenita
Freeman-Sheldon syndrome
Hold-Oram syndrome
Poland syndrome
Down syndrome
Marfan syndrome
Neurofibromatosis

25. Others… Constructive band syndrome Arthrogryposis multiplex congenita
Freeman-Sheldon syndrome
Hold-Oram syndrome
Poland syndrome
Down syndrome
Marfan syndrome
Neurofibromatosis

26. Others… Constructive band syndrome Arthrogryposis multiplex congenita
Freeman-Sheldon syndrome
Hold-Oram syndrome
Poland syndrome
Down syndrome
Marfan syndrome
Neurofibromatosis

27. Others… Constructive band syndrome Arthrogryposis multiplex congenita
Freeman-Sheldon syndrome
Hold-Oram syndrome
Poland syndrome
Down syndrome
Marfan syndrome
Neurofibromatosis

28. Others… Constructive band syndrome Arthrogryposis multiplex congenita
Freeman-Sheldon syndrome
Hold-Oram syndrome
Poland syndrome
Down syndrome
Marfan syndrome
Neurofibromatosis

29. Others… Constructive band syndrome Arthrogryposis multiplex congenita
Freeman-Sheldon syndrome
Hold-Oram syndrome
Poland syndrome
Down syndrome
Marfan syndrome
Neurofibromatosis

30. Others… Constructive band syndrome Arthrogryposis multiplex congenita
Freeman-Sheldon syndrome
Hold-Oram syndrome
Poland syndrome
Down syndrome
Marfan syndrome
Neurofibromatosis

31. Others… Constructive band syndrome Arthrogryposis multiplex congenita
Freeman-Sheldon syndrome
Hold-Oram syndrome
Poland syndrome
Down syndrome
Marfan syndrome
Neurofibromatosis

32. You should remember … Classification of congenital anomalies
Definition of most common deformities
Torticollis
Syndactyly, polidactyly, macrodactyly
Cleft Hand
Clubfoot (PEV)
Trigger finger

33. Thank you …