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Neonatal Orthopedic Issues Mikelle Key-Solle, MD May 22, 2006 Neonatal Orthopedic Issues Mikelle Key-Solle, MD May 22, 2006

Objectives u Recognize common orthopedic issues which present in the neonatal period u Generate Objectives u Recognize common orthopedic issues which present in the neonatal period u Generate appropriate differential diagnoses u Identify appropriate interventions from a general pediatric perspective

Overview u Cased-based discussion of five of the more common neonatal orthopedic and musculoskeletal Overview u Cased-based discussion of five of the more common neonatal orthopedic and musculoskeletal conditions – Typical physical exam findings – Management strategies – When to consult an orthopedic surgeon

Case 1 u You are examining a 3 hour old term male infant u Case 1 u You are examining a 3 hour old term male infant u Mother had unremarkable pregnancy and delivery with normal prenatal labs u Infant appears nondysmorphic with a normal exam except for the following feet findings:

Case 1 Case 1

Case 1: Metatarsus Adductus AKA Metatarsus varus u Hindfoot normally positioned, but forefoot adducted Case 1: Metatarsus Adductus AKA Metatarsus varus u Hindfoot normally positioned, but forefoot adducted u Flexible versus non-flexible u 85% spontaneously resolve u Gentle stretching exercises may help u

Metatarsus Adductus u If does not spontaneously resolve, can lead to classic foot deformity Metatarsus Adductus u If does not spontaneously resolve, can lead to classic foot deformity – Sole crease – Lateral bony prominence u May require shoes, casting

Time for Trivia What is the origin of the phrase “getting off on the Time for Trivia What is the origin of the phrase “getting off on the wrong foot”? Putting the left foot down on the floor first when getting out of bed

Case 2 u You are examining a 3 hour old term male infant u Case 2 u You are examining a 3 hour old term male infant u Mother had unremarkable pregnancy and delivery with normal prenatal labs u Infant appears nondysmorphic with a normal exam except for the following feet findings:

Case 2 Case 2

Talipes Equinovarus u AKA Clubfoot u Malalignment of the talocalcaneal, talonavicular and calcaneocuboid joints Talipes Equinovarus u AKA Clubfoot u Malalignment of the talocalcaneal, talonavicular and calcaneocuboid joints

Talipes Equinovarus u Fixed plantar flexion (equinus) of the ankle (talipes) – inability to Talipes Equinovarus u Fixed plantar flexion (equinus) of the ankle (talipes) – inability to bring to foot to a plantigrade (flat) standing position u Inversion/adduction of the heel (varus) u Metatarsus adductus

Talipes Equinovarus u 2: 1 male to female u 50% bilateral u Usually idiopathic Talipes Equinovarus u 2: 1 male to female u 50% bilateral u Usually idiopathic u More severe if associated with neurological, connective tissue, or mechanical conditions

Talipes Equinovarus u Requires urgent orthopedic referral u Treated using Ponseti method of serial Talipes Equinovarus u Requires urgent orthopedic referral u Treated using Ponseti method of serial casting +/- Achilles tendon release – Followed by nighttime bracing for 2 years u Outcomes typically very good

Summary u Case 1: Metatarsus Adductus – Forefoot adduction; most spont resolve u Case Summary u Case 1: Metatarsus Adductus – Forefoot adduction; most spont resolve u Case 2: Talipes Equinovarus – 3 components; early ortho referral u Case 3: u Case 4: u Case 5:

Time for Trivia What do Kristi Yamaguchi, Mia Hamm, and Troy Aikman all have Time for Trivia What do Kristi Yamaguchi, Mia Hamm, and Troy Aikman all have in common? All had congenital clubfoot treated with Ponseti method

Case 3 u You are examining a 4 week old term female, born by Case 3 u You are examining a 4 week old term female, born by c-section (breech) u NBN course unremarkable u Parents report infant seems to prefer keeping head tilted towards the right shoulder

Case 3 u What do you expect to find on physical exam? u What Case 3 u What do you expect to find on physical exam? u What is a common association with this condition?

Congenital Muscular Torticollis (CMT) u AKA “wryneck” u Unilateral deformity of the sternocleidomastoid (SCM) Congenital Muscular Torticollis (CMT) u AKA “wryneck” u Unilateral deformity of the sternocleidomastoid (SCM) muscle resulting in chin pointing away and head tilting towards the affected side u Within first few weeks, may be able to palpate a firm, non-tender SCM mass

CMT u Associations: – 80 -90% with contralateral plagiocephaly and ipsilateral facial flattening – CMT u Associations: – 80 -90% with contralateral plagiocephaly and ipsilateral facial flattening – 20% with hip dysplasia

CMT u Differential diagnosis: 3 categories – Osseous u. Klippel-Feil syndrome, congenital scoliosis – CMT u Differential diagnosis: 3 categories – Osseous u. Klippel-Feil syndrome, congenital scoliosis – Non-osseous u. Sandifer syndrome – Neurogenic u. CNS tumors, Chiari malformation u. Ocular torticollis u. Paroxysmal torticollis

CMT CMT

CMT u Treatment consists of passive stretching – PT referral by 2 -3 months CMT u Treatment consists of passive stretching – PT referral by 2 -3 months if >10° dec ROM 85% will correct by 18 months u Persistence after 18 months warrants orthopedic referral u

Summary u Case 1: Metatarsus Adductus – Forefoot adducted; most spont resolve u Case Summary u Case 1: Metatarsus Adductus – Forefoot adducted; most spont resolve u Case 2: Talipes Equinovarus – 3 components; early splinting u Case 3: Cong. Muscular Torticollis – Head tilt; SCM mass early; stretching u Case 4: u Case 5:

Time for Trivia (or maybe just “triviality”) Time for Trivia (or maybe just “triviality”)

Case 4 u You are examining a 3 hour old term male born by Case 4 u You are examining a 3 hour old term male born by c-section for failure to progress u Mother’s history is significant for bilateral clubfoot s/p correction, s/p pelvic stabilization surgery, malignant hyperthermia, and rheumatoid arthritis; father healthy

Case 4 u Infant exam remarkable for – Diffuse hypertonicity and limited ROM – Case 4 u Infant exam remarkable for – Diffuse hypertonicity and limited ROM – Bilateral finger and toe deformities, ulnar deviation of fingers – Bilateral elbow extension, forearm pronation – Bilateral flexion deformity of knees – Bilateral clubfoot – Few skin creases over joints

Case 4 Case 4

Arthrogryposis Multiplex Congenita (AMC) u Collection of >150 conditions leading to >2 joint contractures Arthrogryposis Multiplex Congenita (AMC) u Collection of >150 conditions leading to >2 joint contractures u Non-progressive u Fibrosis of connective tissue and muscle u Etiology unknown, multifactorial

AMC u Etiologic categories: neurologic vs. non-neuro – Neuropathic u Amyoplasia u Meningomyelocele u AMC u Etiologic categories: neurologic vs. non-neuro – Neuropathic u Amyoplasia u Meningomyelocele u Spinal muscular atrophy – Muscle abnormality u Cong muscular/myotonic dystrophy, myasthenia u Intrauterine myositis u Mitochondrial disorders – Connective tissue abnormality u Dwarfism u Multiple pterygium syndorme u Distal arthrogryposis – Intrauterine abnormality u Limited fetal space u Vascular compromise

AMC u Only 30% genetic – All forms of inheritance – Examples: Trisomy 18/21, AMC u Only 30% genetic – All forms of inheritance – Examples: Trisomy 18/21, Holt-Oram, Mobius, nemaline myopathy, Zellweger, Pfeiffer, Poland u Most common form is amyoplasia (40%)

AMC: Amyoplasia shoulder--internal rotation deformity u elbow--extension and pronation deformity u wrist--volar and ulnar AMC: Amyoplasia shoulder--internal rotation deformity u elbow--extension and pronation deformity u wrist--volar and ulnar deformity u hand--fingers in fixed flexion, and thumbin-palm deformity u hip--flexed, abducted and externally rotated, often dislocated u knee--flexion deformity u foot--clubfoot deformity u

AMC u Associations – Midface hemangiomas – Scoliosis – Growth retardation – Abdominal hernias AMC u Associations – Midface hemangiomas – Scoliosis – Growth retardation – Abdominal hernias u Typically normal intelligence

AMC u Cause determines prognosis – If neurologic deficit, brain/spine MRI – If dysmorphic AMC u Cause determines prognosis – If neurologic deficit, brain/spine MRI – If dysmorphic features, karyotype and genetics consult u Early orthopedic referral necessary – Non-surgical measures used in neonatal period u Splinting/casting u PT and ROM exercises

Summary u Case 1: Metatarsus Adductus – Forefoot adducted; most spont resolve u Case Summary u Case 1: Metatarsus Adductus – Forefoot adducted; most spont resolve u Case 2: Talipes Equinovarus – 3 components; early splinting u Case 3: Cong. Muscular Torticollis – Head tilt; SCM mass early; stretching u Case 4: Arthrogryposis Multiplex Congenita – Multiple contractures; neuro vs non-neuro; amyoplasia most common; splinting/casting in neonatal period u Case 5:

More Triviality More Triviality

Case 5 u You are examining a 4 week old term female born by Case 5 u You are examining a 4 week old term female born by c-section (breech) u NBN course was unremarkable u Parents have no concerns u Growth parameters all 50%th percentile

Case 5 u Previous exam revealed a right hip click with Barlow maneuver, but Case 5 u Previous exam revealed a right hip click with Barlow maneuver, but now this has progressed to a “clunk” – What are Barlow and Ortolani maneuvers?

Case 5: Barlow and Ortolani Infant must be relaxed u Examine one hip at Case 5: Barlow and Ortolani Infant must be relaxed u Examine one hip at a time u Hip flexed 90°, gentle manipulation u Barlow=Back + adduction u Ortolani=Out + anterior u Positive if “clunk” palpable/heard u

Case 5 u What additional physical exam findings would suggest hip dysplasia? – Asymmetric Case 5 u What additional physical exam findings would suggest hip dysplasia? – Asymmetric gluteal/thigh folds – Leg length discrepancy (3 -6 months) – Limited hip abduction (3 -6 months)

Developmental Dysplasia of the Hip (DDH) u Definitions – Dysplasia: abnormal formation/development of hip Developmental Dysplasia of the Hip (DDH) u Definitions – Dysplasia: abnormal formation/development of hip joint – Subluxated: Femoral head is partially out of proper articulation with acetabulum – Dislocatable: ability to force femoral head out of articulation with acetabulum – Dislocated: femoral head is not articulating normally with the acetabulum at baseline

DDH u DDH recently coined due to the progressive nature of the problem, ie. DDH u DDH recently coined due to the progressive nature of the problem, ie. Many hips normal at birth, but become unstable during the ensuing weeks/months

DDH u Why worry? – Premature degenerative joint disease – Impaired walking – Chronic DDH u Why worry? – Premature degenerative joint disease – Impaired walking – Chronic pain

DDH u What other historical factors would increase your suspicion? – Breech female: 20 DDH u What other historical factors would increase your suspicion? – Breech female: 20 per 1000 – FHx + female: 12 per 1000 – Female, no risk factors: 5 per 1000 – Breech male: 4 per 1000 – Male, no risk factors: 0. 3 per 1000 Bache CE, Clegg J, Herron, M. Risk factors for developmental dysplasia of the hip: ultrasonographic findings in the neonatla period. J Pediatr Orthop B. 2002; 11: 212 -218.

DDH u Screening controversy – No direct evidence that screening improves functional outcomes – DDH u Screening controversy – No direct evidence that screening improves functional outcomes – Studies show ↓, unchanged, and rates of surgery among screened infants – Variable definitions of “positive” – No gold standard – Poor quality evidence for effectiveness of both non-surgical and surgical treatments

DDH u X-ray – Femoral head does not ossify until 3 -6 months – DDH u X-ray – Femoral head does not ossify until 3 -6 months – Radiographic outcomes have not been shown to be valid or reliable surrogate for functional outcomes

DDH u Ultrasound – High false positive rate (ie. high rate of non-pathological hip DDH u Ultrasound – High false positive rate (ie. high rate of non-pathological hip findings) – Intraobserver reliability moderate – Interobserver reliability fair – May decrease unnecessary treatment when compared to clinical exam alone – Reliability of classification is questionable

DDH u AAP recommendations from 2000 still stand – Screen during newborn period and DDH u AAP recommendations from 2000 still stand – Screen during newborn period and each subsequent WCC with physical exam – If exam findings abnormal or breech female, obtain ultrasound at 1 month or when detected thereafter

DDH u If pt deemed to have possible DDH, ortho referral recommended u Initial DDH u If pt deemed to have possible DDH, ortho referral recommended u Initial treatment nonsurgical – typically Pavlik harness, which has been shown to reduce rate of AVN

DDH u Pavlik harness less successful: – Bilateral DDH – True dislocation – Age DDH u Pavlik harness less successful: – Bilateral DDH – True dislocation – Age >8 weeks at initiation Atalar H, Sayli U, Yavuz OY, et al. Indicators of successful use of the Pavlik harness in infants with DDH. Int Ortho. Apr 2006; (epub ahead of print).

Summary u Case 1: Metatarsus Adductus – Forefoot adducted; most spont resolve u Case Summary u Case 1: Metatarsus Adductus – Forefoot adducted; most spont resolve u Case 2: Talipes Equinovarus – 3 components; early splinting u Case 3: Cong. Muscular Torticollis – Head tilt; SCM mass early; stretching u Case 4: Arthrogryposis Multi. Congenita – Multiple contractures; neuro vs non-neuro; amyoplasia most common; splinting/casting in neonatal period u Case 5: Developmental Dysplasia of Hip – Screen at every WCC +/- ultrasound; ortho referral if +; Pavlik harness highly successful

References u u u Alfonso, I, Papazian O, Paez JC, and Grossman, JA. Arthrogryposis References u u u Alfonso, I, Papazian O, Paez JC, and Grossman, JA. Arthrogryposis Multiplex Congenita. International Peds. 2000; 15(4): 197 -204. Freed SS, and Coulter-O’Berry C. Identification and Treatment of congenital muscular torticollis in infants. Jour of Pros and Ortho. 2004; 16(45): 18 -23. Hulme A. The management of congenital talipes equinovarus. Early Human Development. 2005; 81: 797 -802. Shipman SA, Helfand M, Moyer VA, and Yawn BP. Screening for developmental dysplasia of the hip: a systematic literature review for the US Preventive Services Task Force. Pediatrics 2006; 117: 557 -576. Weiner DS. Pediatric Orthopedics for Primary Care Physicians, Second Edition. New York, NY: Cambridge University Press; 2004