BONE AND JOINT CONGENITAL DISORDERS WRIST DISORDERS 1262020

BONE AND JOINT CONGENITAL DISORDERS WRIST DISORDERS 12/6/2020 1

n n Congenital anomalies affect 1% to 2% of newborns approximately 10% of those children have upper-extremity abnormalities 12/6/2020 2

BONE AND JOINT CONGENITAL DISORDERS Osteochondral dysplasias Metabolic disorders Syndroms 12/6/2020 7

Osteochondral dysplasias Achondroplasia Hypochondroplasia Diastrophic dysplasia Kniest dysplasia Spondyloepiphyseal dysplasia Metaphyseal chondrodysplasia Dyschondrosteosis 12/6/2020 8

achondroplasia AD pre. =1. 3/100000 80% random new mutation (paternal age) Collagen type II chromosome 12 Enchondral ossification Rhizomelic shortness 12/6/2020 9

achondroplasia 12/6/2020 10

achondroplasia Limitation in elbow extension Genu varum Ankle valgus Waddling gait Hip flexion contracture Motor retardation Kyphosis in spine 12/6/2020 11

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achondroplasia Mortality rate is increased because of: Sudden death CNS CV 12/6/2020 14

Metabolic disorders Mineral phase Rickets Organic phase Oi Osteopetrosis Conective tissue syndroms Endocrinopathies Hypothyroidism Gonadal abnormality Fibrous dysplasia 12/6/2020 15

Osteogenesis imperfecta Collagen I Fragility of bone 21. 8/100000 Short stature , scoliosis Defective dentinogenesis Middle ear deafness Laxity of lig. Blue sclerae & tympanic membrane Prenatal diagnosis by US except In mild forms( I, IV) 12/6/2020 16

Increase in woven bone does not mature to lamellar bone Osteocyte are increased Trabeculae are thin and poorly arranged Haversian canal does not developed Bone mineral density is decreased on DEXA 12/6/2020 17

Osteogenesis imperfecta OI congenita OI tarda 12/6/2020 18

SHORT STATURE BOWING OF LIMBS SCOLIOSIS BLUE SCLERA I, II DENTINOGENESIS IMPERFECTA TREFOIL SHAPED FACE 12/6/2020 19

Coxa vara Protrusio acetabuli Wormian bones Biconcave vertebra Long bones are thin and osteopenic Concertina appearance in femur Widening of metaphysis , popcorn epiphysis 12/6/2020 20

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Syndroms Neurofibromatosis Arthrogryposis Down syndrome Turner syndrome Noonan syndrome 12/6/2020 23

Neurofibromatosis (von Recklinghausen's disease) is the most prevalent skeletal dysplasia transmitted by a single gene. It is inherited in an autosomal dominant pattern with variable expression, although the disease is believed to occur due to a new mutation in 50% of the affected individuals. The estimated prevalence is 1 per 1000 live births. 12/6/2020 24

Neurofibromatosis type I (NF-I) is the more common form and is characterized by peripheral neurofibromas, skeletal involvement, and “café au lait spots. ” The genetic locus for NF-I has been localized to chromosome 17 q 11. 2, an area that encodes for the protein neurofibromin. This protein is present in several organ systems and is believed to be a tumor suppressor. Neurofibromatosis type II (NF-II) manifests as central neurofibromas with bilateral acoustic neuromas and usually presents in the third or fourth decade of life. The gene for NF-II has been localized to chromosome 22 and encodes for the protein schwannomin. 12/6/2020 25

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n Plexiform neurofibromas are large nerve tumors that are locally invasive, feel like a “bag of worms, ” and have the potential for malignant transformation. Skeletal lesions: Scoliosis is most common n n Hypertrophy or hemiatrophy due to neurofibromatosis can be seen Congenital pseudarthrosis of the tibia and forearm may be present. Protrusio acetabuli 12/6/2020 29

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CONGENITAL ELEVATION OF THE SCAPULA (SPRENGEL'S DEFORMITY) n n Results from a failure of the normal caudal migration of the scapula during the fetal period of development. Scapula with this malformation is usually hypoplastic with decreased vertical length and increased horizontal width-to-height ratio , which is 2 to 10 cm more cephalad than normal 12/6/2020 34

n ROTATION The inferior pole is rotated medially with the glenoid displaced inferiorly. n The periscapular muscles may be hypoplastic or absent, causing scapular winging. n Right = left n bilateral involvement = 10% to 30% 12/6/2020 35

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Assossiated anomalies Scoliosis Klippel-feil syndrom Rib cage CDH Hand Foot Renal 12/6/2020 37

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polydactyly 12/6/2020 41

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syndactyly 12/6/2020 47

Apart & Poland syndromes 12/6/2020 48

Transvers failure of formation 12/6/2020 50

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Longitudinal failure of formation Radial club hand Ulnar club hand 12/6/2020 52

Radial club hand 12/6/2020 53

Radius deficiency 1: 30, 000 nearly always associated with thumb and carpal deficiencies and frequently associated with other upper extremity anomalies, anomalies of other organ systems, and syndromes VACTERL association (not inheritable; it may be accompanied by Vertebral, Anal, Cardiac, Tracheo. Esophageal, Renal or Radial, and Lung anomalies) Holt-Oram syndrome (autosomal dominant inheritance of cardiac septal defects associated with upper limb anomalies) TAR syndrome (autosomal dominant or recessive inheritance of completely absent radius with a nearnormal thumb and thrombocytopenia). 12/6/2020 54

Radius deficiency is usually bilateral, although the two sides are frequently asymmetric; when the condition is unilateral, it is more common on the right. The radial wrist extensors and extrinsic thumb motors are usually absent or aberrant. The radial nerve is usually absent below the elbow, and the median nerve is always present and often the most prominent structure on the radial side of the wrist. The radial artery is usually absent. 12/6/2020 55

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treatment Children with type 0, 1, or mild type 2 radial deficiency usually require stretching and splinting surgical treatment. 12/6/2020 59

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Thumb Hypoplasia 12/6/2020 62

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Compressive neuropathy of the median nerve within the carpal tunnel may result from any space-occupying lesion under the TCL. A frequent cause is flexor tenosynovitis; other causes are fractures and dislocations of the floor of the canal and distal radius, and other space-occupying lesions such as tumors and ganglia. These space-occupying lesions increase the volume of the contents of the noncompliant carpal tunnel, raising the pressure on its contents, which include the median nerve. In many cases, there are no particular identifiable causes even though the nerve is clearly compressed. Although many of these cases are attributed to “nonspecific synovitis, ” 12/6/2020 67

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Complain = aching or burning pain along the median nerve distribution and of numbness and tingling in the median-nerve-innervated digits during night and early morning as well as during activities. (Numbness may extend into the ulnar digits in some patients. ) These symptoms are aggravated by elevation, repetitive activities, and prolonged flexion positioning of the wrist. Radiation of symptoms proximal to the wrist is not unusual. Complaints of the hand feeling fat, clumsiness in manipulation, and dropping items are also frequent. The incidence is greater in women than in men, although the difference is decreasing. In the past, postmenopausal women were the most common patients; commonly associated diagnoses were rheumatoid arthritis and distal radius malunion. Recently, a large, younger group of patients with essentially equal distribution of women and men has emerged. In this group the carpal tunnel disease has been labeled idiopathic. 12/6/2020 69

Examination includes sensory, provocative, sudomotor, and strength testing 12/6/2020 70

the most consistent and reliable way to evaluate sensibility in nerve compression is to use threshold testing (Semmes– Weinstein monofilaments, vibrometry, and 256 cps vibration testing). 12/6/2020 71

n Provocative tests compress or percuss nerve to elicit the median numbness and paresthesias in the distribution of… 12/6/2020 73

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The mild group consists of patients with intermittent symptoms that have been present less than 1 year, who have normal two-point discrimination, no thenar weakness or atrophy, no denervation potentials on EMG, and mildly elevated NCV. With conservative treatment and steroid injection, 40% will be free of symptoms at 12 months. 12/6/2020 75

The severe group consists of those with profound, persistent symptoms that have been present longer than 1 year, thenar weakness or atrophy, and marked abnormalities on electrodiagnostic studies. Patients in the severe group fail to respond adequately to conservative therapy and should receive operative treatment, which may include tendon transfers concurrent with carpal tunnel release. 12/6/2020 76

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In the moderate group, conservative treatment shows findings and gives results intermediate between those of the mild and severe groups. The presence of underlying disorders or advanced age in any of these patients diminishes the response to conservative care. 12/6/2020 79

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De Quervain syndrome washerwoman's sprain, radial styloid tenosynovitis, de Quervain disease, de Quervain's tenosynovitis, de Quervain's stenosing tenosynovitis, mother's wrist, or mommy thumb) 12/6/2020 89

history Swiss surgeon Fritz de Quervain 1895 de Quervain's thyroiditis 12/6/2020 90

Pathology. extensor pollicis brevis abductor pollicis longus 12/6/2020 91

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Cause The cause of de Quervain's disease is not known. idiopathic. overuse injuries 12/6/2020 93

Symptoms are pain, tenderness, and swelling over the thumb side of the wrist, and difficulty gripping Finkelstein's test 12/6/2020 94

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Osteoarthritis of the first carpo-metacarpal joint Intersection syndrome—pain will be more towards the middle of the back of the forearm and about 2– 3 inches below the wrist Wartenberg's syndrome 12/6/2020 97

treatment 12/6/2020 98

Kienbock's disease It is named for Dr. Robert Kienböck, a radiologist in Vienna, Austria who described osteomalacia of the lunate in 1910. 12/6/2020 99

Kienbock's disease fewer than 200, 000 people in the U. S. population. 12/6/2020 100

It is breakdown of the lunate bone is another name for avascular necrosis[ (death and fracture of bone tissue due to interruption of blood supply) with fragmentation and collapse of the lunate. 12/6/2020 101

Predisposing factors a number of factors predisposing a person to Kienbock's. Trauma Ulnar variance about one-third of sufferers report the condition in their non-dominant hand. 12/6/2020 102

Classification Type I Normal radiograph (possible lunate fracture). Type II Sclerosis of the lunate without collapse. Type III Lunate is completely dead. Type IV Changes up to and including fragmentation, with superimposed arthritic change. 12/6/2020 103

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Treatment Revascularization Radial shortening Proximal Row Carpectomy Titanium or silicon implant Total wrist fusion 12/6/2020 105

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