1. Orthopedic Congenital Anomalies Assist. Prof. Afkar Ragab Ped. Nursing Department Cairo University 2014 28/09/1437Afkar_ragab@cu.edu.egDr. Afkar Ragab afkar_ragab@cu.edu.eg

2. Learning Objectives After 2 hours Lecture the students will be able to Identify the most common congenital orthopedic disorders. Describe the etiology of common congenital orthopedic disorders Illustrate the clinical manifestations for each congenital orthopedic disorder. Discuss the suitable plane of care for a child with orthopedic disorders 28/09/1437Dr. Afkar Ragab afkar_ragab@cu.edu.eg 2

3. Developmental Dysplasia of the Hip Developmental dysplasia of the hip ( DDH)is a congenital (present at birth) condition of the hip joint. It occurs once in every 1,000 live births, hip dysplasia is more common in females than males. 28/09/1437Dr. Afkar Ragab afkar_ragab@cu.edu.eg 3

4. The hip joint is created as a ball and socket joint. In DDH, the hip socket may be shallow, letting the "ball" of the long leg bone, also known as the femoral head, slip in and out of the socket. The "ball" may move partially or completely out of the hip socket. 28/09/1437Dr. Afkar Ragab afkar_ragab@cu.edu.eg 4

5. Congenital Dislocation 28/09/1437Dr. Afkar Ragab afkar_ragab@cu.edu.eg5

6. 28/09/1437 Congenital Dislocation of the Hip In this condition the femur head is completely dislocated from the acetabulum.  limited abduction to the hip.  Asymmetry of the gluteal skin folds and inguinal creases  Apparent shortening of the affected leg.  Ortolani click Clinical Manifestations 6

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9. Causes  The factors are usually both genetic and environmental.  One of the environmental influences thought to contribute to hip dysplasia is the baby's response to the mother's hormones during pregnancy.  A tight uterus that prevents fetal movement  A breech delivery may also cause hip dysplasia. 28/09/1437Dr. Afkar Ragab afkar_ragab@cu.edu.eg9

10. Risk Factors First-born babies are at higher risk since the uterus is small and there is limited room for the baby to move; Family history of developmental dysplasia of the hip, or very flexible ligaments Position of the baby in the uterus, especially with breech presentations Associations with other orthopaedic problems that include metatarsus adductus, clubfoot deformity, congenital conditions, and other syndromes 28/09/1437Dr. Afkar Ragab afkar_ragab@cu.edu.eg10

11. Diagnostic procedures x-ray - ultrasound computed tomography scan magnetic resonance imaging (MRI) 28/09/1437Dr. Afkar Ragab afkar_ragab@cu.edu.eg11

12. Treatment Treatment for developmental dysplasia of the hip (DDH): Specific treatment for DDH will be determined by the baby's physician based on:  your baby's gestational age, overall health, and medical history  the extent of the condition  your baby's tolerance for specific medications, procedures. The goal of treatment is to put the femoral head back into the socket of the hip so that the hip can develop normally. 28/09/1437Dr. Afkar Ragab afkar_ragab@cu.edu.eg12

13. Non-surgical positioning device or placement of a Pavlik harness Casting If the hip continues to be partially or completely dislocated, casting or surgery may be required. Surgery If the other methods are not successful, or if DDH is diagnosed at age 6 months to 2 years, surgery may be required to put the hip back into place manually, also known as a "closed reduction." 28/09/1437Dr. Afkar Ragab afkar_ragab@cu.edu.eg13

14. Keep the cast clean and dry. Check for cracks or breaks in the cast. Rough edges can be padded to protect the skin from scratches. Do not scratch the skin under the cast by inserting objects inside the cast. 28/09/1437Dr. Afkar Ragab afkar_ragab@cu.edu.eg14 Cast care instructions:

15. Do not put powders or lotion inside the cast. Cover the cast during feedings to prevent spills from entering the cast. Prevent small toys or objects from being put inside the cast. Elevate the cast above the level of the heart to decrease swelling. Do not use the abduction bar on the cast to lift or carry the baby. 28/09/1437Dr. Afkar Ragab afkar_ragab@cu.edu.eg15

16. Dr. Afkar Ragab afkar_ragab@cu.edu.eg28/09/1437 Clubfoot is when the foot turns inward and downward. It is a congenital condition, which means it is present at birth. 16

17. Causes: see DHD Risk factors for clubfoot: Family history of clubfoot Position of the baby in the uterus Neuromuscular disorders, such as cerebral palsy (CP) and spina bifida Oligohydramnios (decreased amount of amniotic fluid surrounding the fetus in the uterus) during pregnancy 28/09/1437Dr. Afkar Ragab afkar_ragab@cu.edu.eg17

18. Dr. Afkar Ragab afkar_ragab@cu.edu.eg28/09/1437 Talipes Varus inward deviattion Talipes valgus outward deviattion Talipesequinous downward deviattion Talipescalcnous upward deviattion 18

19. Club foot Casting Series of casts 28/09/1437Dr. Afkar Ragab afkar_ragab@cu.edu.eg19

20. Metatarsus adductus Metatarsus adductus, also known as metatarsus varus, is a common foot deformity noted at birth that causes the front half of the foot, or forefoot, to turn inward. Metatarsus adductus may also be referred to as "flexible" (the foot can be straightened to a degree by hand) or "non-flexible" (the foot cannot be straightened by hand). 28/09/1437Dr. Afkar Ragab afkar_ragab@cu.edu.eg20

21. Syndactyle Polydactyl 28/09/1437Dr. Afkar Ragab afkar_ragab@cu.edu.eg21

22. Osteogenesis imperfecta 28/09/1437Dr. Afkar Ragab afkar_ragab@cu.edu.eg22

23. Osteogenesis imperfecta Osteogenesis imperfecta (OI) is disorder of congenital bone fragility caused by mutations in the genes that codify for type I procollagen (ie, COL1A1 andCOL1A2). The following 4 types of osteogenesis imperfecta have been reported.  Type I - Mild forms  Type II - Extremely severe  Type III - Severe  Type IV - Undefined 28/09/1437Dr. Afkar Ragab afkar_ragab@cu.edu.eg23

24. Pathophysiology Type I collagen fibers are found in the bones, organ capsules, fascia, cornea, sclera, tendons, meninges, and dermis. Type I collagen, which constitutes approximately 30% of the human body by weight, is the defective protein in osteogenesis imperfecta. 28/09/1437Dr. Afkar Ragab afkar_ragab@cu.edu.eg24

25. Blue sclerae Triangular facies Macrocephaly Hearing loss Defective dentition Barrel chest Scoliosis Limb deformities Fractures Joint laxity Growth retardation Manifestations 28/09/1437Dr. Afkar Ragab afkar_ragab@cu.edu.eg25

26. History Patients often have a family history of osteogenesis imperfecta (OI), but most cases are due to new mutations. Patients most commonly present with fractures after minor trauma. In severe cases, prenatal screening ultrasonography performed during the second trimester may show bowing of long bones, fractures, limb shortening, and decreased skull echogenicity. Lethal osteogenesis imperfecta cannot be diagnosed with certainty in utero. 28/09/1437Dr. Afkar Ragab afkar_ragab@cu.edu.eg26

27. Cont. Patients may bruise easily. Patients may have repeated fractures after mild trauma. However, these fractures heal readily. Deafness is another feature. About 50% of patients with type I osteogenesis imperfecta have deafness by age 40 years. 28/09/1437Dr. Afkar Ragab afkar_ragab@cu.edu.eg27

28. Physical examination can vary depending on the severity. Type I - Mild formsPatients have no long-bone deformity. The sclera can be blue or white. Dentinogenesis imperfecta may be present. Over a lifetime, numbers of fractures can range from 1-60 or more. Height is usually normal in individuals with mild forms of osteogenesis imperfecta. 28/09/1437Dr. Afkar Ragab afkar_ragab@cu.edu.eg28

29. People with osteogenesis imperfecta have a high tolerance for pain. Old fractures can be discovered in infants only after radiographs are obtained for other reasons other than an assessment of osteogenesis imperfecta, and they can occur without any signs of pain. Exercise tolerance and muscle strength are significantly reduced in patients with osteogenesis imperfecta, even in the mild forms. Fractures are most common during infancy but may occur at any age. 28/09/1437Dr. Afkar Ragab afkar_ragab@cu.edu.eg29

30. Type II - Extremely severe Type II is often (but not always) lethal. Blue sclera may be present. Patients may have a small nose, micrognathia,( small Jaw) or both. All patients have in utero fractures, which may involved the skull, long bones, and/or vertebrae. The ribs are beaded, and the long bones are severely deformed. Causes of death include extreme fragility of the ribs, pulmonary hypoplasia, and malformations or hemorrhages of the CNS. 28/09/1437Dr. Afkar Ragab afkar_ragab@cu.edu.eg30

31. Type III – Severe Patients may have joint hyperlaxity, muscle weakness, chronic unremitting bone pain, and skull deformities (eg, posterior flattening) due to bone fragility during infancy. Deformities of upper limbs may compromise function and mobility. The presence of dentinogenesis imperfecta is independent of the severity of the osteogenesis imperfecta. The sclera have variable hues. In utero fractures are common. Limb shortening and progressive deformities can occur. Patients may have a triangular face Constipation and hernias are also common in people with osteogenesis imperfecta. 28/09/1437Dr. Afkar Ragab afkar_ragab@cu.edu.eg31

32. Type IV – Undefined This type of osteogenesis imperfecta is not clearly defined. Dentinogenesis imperfecta may be present. Some have suggested that this sign can be used to divide type IV osteogenesis imperfecta into subtypes a and b. Fractures usually begin in infancy, but in utero fractures may occur. The long bones are usually bowed. 28/09/1437Dr. Afkar Ragab afkar_ragab@cu.edu.eg32

33. Further Outpatient Care Physical therapy in osteogenesis imperfecta (OI)Therapy should be directed toward improving joint mobility and developing muscle strength Overall, emphasize the achievement of functional ability. Independence is the main objective of therapy. Periodic nutritional evaluation and intervention Periodic evaluation and intervention by an occupational therapist (OT) and/or a physical therapist (PT) 28/09/1437Dr. Afkar Ragab afkar_ragab@cu.edu.eg 33

34. Medical Treatment Because osteogenesis imperfecta (OI) is a genetic condition, it has no cure. Cyclic administration of intravenous pamidronate reduces the incidence of fracture and increases bone mineral density, while reducing pain and increasing energy levels. [ 28/09/1437Dr. Afkar Ragab afkar_ragab@cu.edu.eg 34

35. Risedronate may have some effect in reducing fractures in patients with osteogenesis imperfecta. Nutritional evaluation and intervention are paramount to ensure appropriate intake of calcium and vitamin D. Caloric management is important, particularly in adolescents and adults with severe forms of osteogenesis imperfecta. In utero transplantation of adult bone marrow has been shown to decrease perinatal lethality 28/09/1437Dr. Afkar Ragab afkar_ragab@cu.edu.eg 35

36. Congenital Limb Defeciency congenital limb defects? Congenital limb defects occur when a portion or the entire upper or lower limb fails to form normally or does not form when the baby is developing in the uterus. Definition: Congenital limb defects occur when a portion or the entire upper or lower limb fails to form normally or does not form when the baby is developing in the uterus. 28/09/1437Dr. Afkar Ragab afkar_ragab@cu.edu.eg 36

37. Types of L D Phocomelia Congenital absence of the proximal portion of a limb or limbs. Meromelia Absence of one of entire bone Limb Seal Complete absence of all entire bones 28/09/1437Dr. Afkar Ragab afkar_ragab@cu.edu.eg 37

38. Management of L D o Promoting normal development o Discovering sense of independence o Encouraging self-care o Improving cosmetic appearance o Adaptation Treatment options may include: prosthetics (artificial limbs) orthotics (splints or braces) surgery Rehabilitation (physical or occupational therapy) 28/09/1437Dr. Afkar Ragab afkar_ragab@cu.edu.eg 38

39. The intake of folic acid to prevent neural tube defects and other congenital anomalies Premarital/ conception vaccination programs like congenital rubella syndrome, now largely controlled by vaccination programs Premarital counseling programs Primary prevention programs Which are based on public education about preconception and prenatal risks. General Prevention of Congenital Anomalies 28/09/143739Dr. Afkar Ragab afkar_ragab@cu.edu.eg

40. General Prevention of Congenital Anomalies The treatment of women with diabetes mellitus and epilepsy before and during pregnancy is considered Prevention of environmental Exposure Good nutrition of female both at adolescence through marital life and pregnancy The basis for public health preventive measures should be the primary health care level. 28/09/143740Dr. Afkar Ragab afkar_ragab@cu.edu.eg

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