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NMS1 Exam 2

CH 8 material

Congenital Anomalies Definition? Defects in the development of body form or function that are present at the time of birth
Incidence of Congenital Anomalies? -3% of infants have observable defects at birth -6% of all babies have detectable defects identified by age 1
T or F- It is common for two, or even more, abnormalities to co-exist in a given child. True
T or F? Harmful environmental influences may alter the germ cells of either parent before fertilization takes place, or they may alter the normal development of the child during its intrauterine life. True
Two of the most well known environmentally caused (teratogenic) birth defects are? 1. Mothers infected by the rubella virus (German measles) 2. Maternal ingestion of the drug thalidomide
7 Types of Congenital Musculoskeletal Abnormalities? hint-AHDAHDP 1. Aplasia (failure to form entirely) 2. Hypoplasia (failure to grow normally) 3. Dysplasia (growth is abnormal) 4. Arrest (failure to complete growth) 5. Hypertrophy (overgrowth) 6. Duplication (supernumerary parts) 7. Polydactyly (extra digits)
What is Antenatal Diagnosis? Diagnosis of anomalies pre-birth
What is Maternal Serum Alpha Fetoprotein(MSAFP)? The substance tested for in a screening test When a fetus has an open neural tube defect (NTD)... the MASFP level is elevated
What is the Congenital overriding of the fifth toe a result of? A dorsal subluxation of the metatarsophalangeal joint.
What is the common name for Congenital varus of the small toes and which toe is most commonly affected? Curly Toes, the 3rd toe
What is Metatarsus Primus Varus? An adduction deformity wherein there is a medial deviation (toward the midline) of the first metatarsal.
What is Metatarsus Adductus (Metatarsus Varus)? A varus (toward the midline) deviation of all five metatarsals in relation to the hindfoot.
What other congenital anomaly is sometimes found with metatarsus adductus? Developmental hip dysplasia (seen in 2% of patients with metatarsus adductus)
What are 3 treatments for metatarsus adductus? 1. avoidance of sleeping face down with the infant’s feet curled in. 2. A series of plaster casts 3. Denis Browne foot splint
What are the deformities associated with congenital clubfoot? -forefoot adduction and supination through the midtarsal joint -heel varus through the subtalar joint, -equinus through the ankle joint -medial deviation of the entire foot in relation to the knee.
What is the primary treatment for clubfoot? 40 % conservative treatment: Plaster casts changed weekly and a Denis brown splint 60% require surgery
What is the incidence of clubfoot and what gender does it affect more? 2 of every 1,000 live births and it Affects boys twice as often as girls.
What is Talipes varus? J shape (foot inward)
What is Talipes valgus? L shape (foot rotates outward)
What is Talipes equinos? foot downward (toe dancer)
What is Talipes calcaneovalgus? foot upward, heel pointing down
What is the treatment for Talipes Calcaneovalgus? daily passive stretching of the soft tissues
What is Congenital Plantar Flexed (Vertical) Talus? How is it treated? A combination of plantar flexion of the hindfoot and dorsiflexion of the forefoot produces a convex, “rocker” like appearance). Multi-stage surgical correction is required and often leaves residual deformity.
What is Tarsal Coalition (Rigid Valgus Foot)? How is it treated? Any two of the tarsal bones in the hindfoot may be congenitally joined together...commonly referred to as peroneal spastic flatfoot. Surgery
What is Accessory Tarsal Navicular? How is it treated? The tarsal bone, navicular, is congenitally larger than normal and a separate center of ossification appears within it on the medial side. surgically excise the accessory bone along with the prominent portion of the navicular
What percent of the adult population has limb-length differences of 10 mm or more? 5mm? 10mm-30% 5mm-50%
For persons with limb-length differences of over 1 inch, what treatment should be considered? Ilizarov Technique
What is Congenital Dislocation of the Knee? What is the treatment? Aterior dislocation of the knee joint causing it to go into gross hyperextension and abduction. Surgery
How are Coxa Vara & Coxa Valga defined Coxa Vara = femoral neck/shaft angle less than 120 degrees Coxa Valga = femoral neck/shaft angle greater than 120 degrees
What is Coxa Vara? How is it treated? A congenital defect of ossification in the femoral neck,resulting in a slowly developing, progressive varus deformity (coxa vara) of the upper end of the femur. surgical abduction (valgus) subtrochanteric osteotomy of the femur.
What is Developmental Hip Dysplasia? How is it treated? A congenital dislocation or subluxation of the hip. If caught early on a Frejka pillow splint or Pavlik harness is used, followed by a spica cast. (has 80% success rate!) -Surgery if the conservative treatment doesn't work
Define Hip Dislocation: The femoral head being completely outside the socket (acetabulum), but still within the stretched and elongated capsule (an intracapsular dislocation)
Define Hip Subluxation: The femoral head riding laterally and proximally but still in contact with at least a part of the acetabulum.
What is the incidence and other stats that are common to congenital/developmental Hip Dysplasia? -1.5 cases for every 1,000 live births -Bilateral in more than half of affected children -Affects females 8x more often than males -Higher incidence in breech presentation births
T or F? One of every 60 infants is born with laxity of the ligaments surrounding the hip. False- One of every 80 infants is born with laxity of the ligaments surrounding the hip.
T or F? Persistent dislocation/subluxation tends to cause progressive secondary changes in all the structures surrounding the hip, including the acetabulum. True
What 2 tests are used to diagnose Developmental Hip dysplasia? Barlow's test & Ortolani's test
What does Barlow's test indicate? A positive Barlow’s Test indicates that the hip is dislocatable, but is not dislocated.
What does Ortolani's test indicate? If the femoral head lies posterior to the acetabulum when the hip is in the flexed position and it can be reduced by abduction while lifting the femur forward, this is a positive test
What 2 signs are used to diagnose Developmental Hip dysplasia? 1. Extra horizontal buttock fold skin creases 2. Limitation of passive abduction.
What 2 imaging techniques are used to diagnose Developmental Hip dysplasia? 1. Plain film radiography (challenging to interpret in newborns). 2. Ultrasound- more accurate.
T or F: Congenital Amputations of the Lower Limb are Less common than in the upper extremity. True
What is Congenital Hemihypertrophy? Congenital enlargement of a lower limb and an upper limb on the same side as well as that entire half of the trunk and face. The two halves are completely normal in development except for being asymmetrical.
What is Congenital “Trigger” thumb ? How is it treated? constriction (stenosis) of the fibrous sheath of the flexor pollicis longus tendon. Surgical division of the fibrous sheath.
What is the most common congenital abnormality of the hand? And how is it treated? Webbing of the fingers (syndactyly) Reconstructive surgery (Usually best accomplished at around 4 years of age.)
What is Hypoplasia of the Radius (clubhand)? How is it treated? Hypoplasia, or aplasia of the radial portion of the upper limb, including the radius, scaphoid, trapezium, first metacarpal and thumb Requires extensive surgical intervention.
What is Congenital Dislocation of the Head of the Radius? How is it treated? Radius is dislocated laterally and overgrows in length. May require surgery but should not be attempted until the child has reached skeletal maturity.
Hypoplasia of the clavicles may be associated with delayed ossification of the skull. This combination is referred to as? Cleidocranial dysostosis
What is the most common site of Spina Bifida? lumbo-sacral junction
T or F- Fortification of diets of child-bearing age females with folic acid could prevent up to 75% of open spina bifida cases before conception True
What is the mildest & most common form of spina bifida? Spina Bifida Occulta -Up to 10% of the population
What is Spina Bifida with Meningocele? The meninges extrude through a defect in neural arches, thereby forming a meningocele. Covered by normal skin and Contains cerebrospinal fluid and some nerve roots.
What is Spina Bifida with Myelocele (Rachischisis)? What is the prognosis? The most severe form of Spina Bifida. The skin and dura fail to close so that the spinal cord and nerve roots lie completely exposed. Inevitable infection usually results in death during early infancy.
T or F- A congenital high scapula may co-exist with Synostosis of the Cervical Spine (Klippel-Feil Syndrome) True
T or F- 30% of infants with Congenital Muscular Torticollis (Wry Neck) have experienced a difficult birth. False.... 40%
What is Congenital Torticolis? How is it treated? The contracture/shortening of one of the SCM muscles, the head becomes tilted, or laterally flexed toward the affected side and rotated toward the opposite side. Manual reduction of the C-2 rotary subluxation, massage, and stretching.
What is Osteogenesis Imperfecta (Brittle Bones) ? How is it characterized? Genetically determined congenital osteoporosis. Characterized by weakness and fragility of bone, Frequent pathological fractures, lax ligaments and blue sclerae.
What are the characteristics of type 1 Osteogenesis Imperfecta? (Most common and mildest form) -Fractures evident when child begins to walk. -Blue sclerae. -Dentinogenesis (failure of teeth to form normally). -Head appears large. -Limbs are deformed (fractures). -Radiographs reveal slender, deformed and osteoporotic bones.
What are the characteristics of type 2 Osteogenesis Imperfecta? (The most severe type) -Fetal variety -Lethal -Blue Sclerae -Multiple intrauterine fractures -Usually fatal in the perinatal period
What are the characteristics of type 3 Osteogenesis Imperfecta? -severe -Birth fractures and mutiple fractures before walking age. -Limbs become progressively bowed, due to microfractures. -Premature closure of growth plates -Kyphosis and scoliosis -Initially sclerae are blue, however eventually turn white.
What are the characteristics of type 4 Osteogenesis Imperfecta? -Similar to Type I in that it is fairly mild and may only demonstrate dentinogenesis imperfecta. -Sclerae are normal in color
How do you treat osteogenesis imperfecta? -No effective medical treatment is yet available for the underlying defect involved in this condition. -Supportive care directed at prevention of as many fractures as possible
What is the common name for Achondroplasia? Dwarfism
What is the common name for Arachnodactyly? Marfan's Syndrom (Excessively long limbs and digits)
T or F-Marfan’s Syndrom has a high incidence of associated heart disease (weak aorta may balloon and eventually burst). True
What is Enchondromatosis (Ollier’s Dyschondroplasia)? How is it treated? Defective longitudinal growth of some long bones, Predominantly unilateral. Epiphyseal plate cartilaginous cells become enlarged cartilaginous mass (enchondroma). Surgical correction of bony deformities (osteotomy)or for severe limb length differences
What is Multiple Hereditary Exostoses? How is it treated? Multiple outgrowths of bone and cartilage from very broad metaphyseal regions of long bones. Surgical removal of only those that are causing difficulties, or are of notable cosmetic concern.
What is Neurofibromatosis–(von Recklinghausen’s Disease)? How is it diagnosed? A generalized, congenital abnormality of peripheral nerves Skin manifestations: -Café’-au-lait spots – areas of light brown pigmentation (coffee and cream) -Elevated cutaneous neurofibromata(bumps)
What is Amyotonia Congenita (Spinal Muscular Atrophy) ? Generalized congenital abnormality of muscle characterized at birth by an extreme lack of muscle tone (amyotonia)
What is Amyoplasia Congenita (Arthrogryposis Multiplex Congenita)? How is it treated? A crippling congenital abnormality of muscle development characterized byartrhogryposis (“bent joints”) Bony operations such as osteotomy and arthrodesis have been helpful, however, These children mostly remain severely disabled.
Created by: Snowrow
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