Pediatric Congenital Forearm and Elbow

Congenital Problems of the Forearm and ElbowJeffrey C. Wint, M.D.

The Hand Center of Western Massachusetts

CONGENITAL PROBLEMS OF THE FOREARM AND ELBOWJeffrey C. Wint, M.D.

@drwintjwint@handctr.comOffice 413 733 2204

SourcesMorrey, The Elbow and its

DisordersBuck-Gramcko, Congenital

Malformations of the Hand and Forearm

Peimer, Surgery of the Hand and Uper Extremity

EmbryologySynovial joint forms from 7 -10

weeks in uteroEnchondral ossification

◦begins in radius and ulna at 7 weeks in elbow region

◦olecranon and coronoid at 12 weeks◦radial tuberosity at 14 weeks

Physes begin at 14 weeks

Postnatal DevelopmentCRMTOL /CRITOE ossification

centers appear◦Capitellum 1- 2 years◦Radial head 3- 4◦Medial or Inner epicondyle 5 - 6◦Trochlea 7- 8◦Olecranon 9-10◦Lateral or External epicondyle 11- 12

CRITOE

Amputations

Transverse failure of formation 1/20,000 live births below elbow 1/270,000 live births above elbow

Constriction band 1/15,000 (intrauterine deformation)

Associated with systemic anomalies

Embryology- Limb Patterning

• Limb growth= 3 axis system– Proximodistal– Anteroposterior• radial/ ulnar• pre- axial/ post axial– Dorsoventral

Proximodistal AxisAER• Ectoderm over limb bud• Promotes cell proliferation w/o

differentiation• AER key for morphogenesis,

limb elongation• Absence= aplasia Scanning electron micrograph of a 4-week human embryo (5mm), with 34 pairs of somites. Toward the lower left, the right arm bud protrudes from the body. (From Jirásek JE: Atlas of human prenatal morphogenesis, Amsterdam, 1983, Martinus Nijhoff.)

Proximodistal AxisFibroblast growth factor• FGF-2, 4, 8• FGF 10- Transverse arrest• HOX genes• Absent HOX= absent distal

elements• BMPs

Embryology• Loss of AER limb truncation ortransverse deficiencies

AmputationsBelow elbow

Congenital transverse deficiency is defined according to the last remaining bone segment

◦Functional arc of elbow◦Most common transverse deficiency ◦Rarely associated with other anomalies◦Normal biceps and triceps

Radial head dislocation Radioulnar synostosis

Amputations/BEAPassive limb, sitting (6 months)Active terminal ( 2 years)

◦Cable and harness (body powered) 34%

◦Myoelectic 44%, 30%

Compliance and prehension use limited prior to age 8

Kruger LM, Fishman S, Myoelectric and body powered prosthesis JPO 13:68, 1993

BEA

Amputations/BEASurgery

Z plasty for constriction bands Kruckenberg

BILATERAL BLIND AMPUTEE developing countries

◦Transplantation

Amputation/BEA

Kruckenberg procedure

Burkhard Heim 1925 –2001German theoretical physicist

Kruckenberg

Kruckenberg

stump over 10 cm long from the tip of the olecranon

no elbow contracture,

good psychological preparation and acceptance.

J Bone Joint Surg Br. 1991 May;73(3):385-8.The Krukenberg hand.Garst RJ.

TransplantNot for pediatric patients

◦About 50 adult patients worldwide◦US 1999 first case

Recent publicity

Phildelphia child hand transplant

Radioulnar synostosis

Radioulnar synostosisCongenital Synostosis of Radius

and Ulna Sandifort 1793 first anatomic

description

Congenital radioulnar synostosisUpper limb bud 25-28 daysEnd of growth and differentiation at 48 -

50 daysElbow first discernable at 34 days

intrauterine development forearm is in a position midway between neutral and full pronation … thus failure of proximal RU joint differentiation typically leaves the forearm forever in its fetal position

Congenital radioulnar synostosisetiology unknowngenetic basis for some cases

◦20% of their patients, Cleary and Omer found a genetic basis for an autosomal dominant form (with variable penetrance)

positive FH has been reported Leary JE, Omer GE. Congenital proximal

radio-ulnar synostosis. Natural history and functional assessment. J Bone Joint Surg Am. Apr 1985;67(4):539-45

Congenital radioulnar synostosisacropolysyndactlyly

( Carpenter's syndrome)acrocephalosyndactyly ( Apert's)Arthrogryposismandibulofacial dysostosisnondysfunctional sex

chromosomal abnormalities ie Klinefelter's syndrome

Congenital radioulnar synostosis3/2 male

functional complaints are variable◦ Pain is usually not a presenting symptom until the

teenage years, when progressive and symptomatic radial head subluxation may be noted

Often undiscovered◦ Age 6 average with range age 6 months -22years

Leary JE, Omer GE. Congenital proximal radio-ulnar synostosis. Natural history and functional assessment. J Bone Joint Surg Am. Apr 1985;67(4):539-45.

Congenital radioulnar synostosistetralogy of fallotVSD hypoplasia of first and second ribs

and pectoral musculaturemicrocephalyhydrocephalusencephaloceleMRdevelopmental delayhemiplegia

Congenital radioulnar synostosis

Associated hand anomaliesthumb aplasia or hypoplasiapolydactylysyndactylycongenital constriction ring

Congenital radioulnar synostosis

Wilkie 2 types of congenital synostosis,

based on the proximal radioulnar junction

Type 1 complete synostosis with radius and ulna fused proximally

Type 2 partial union associated with radial head dislocation and distal to the physis..Wilkie DP. Congenital radio-ulnar synostosis. Br J Surg. 1914;1:366-75.

Congenital radioulnar synostosis

Congenital radioulnar synostosis

Cleary and Omer four radiographic types:

I fibrous union with a normally-located radial head

II, osseous synostosis with a normal radius

III, osseous synostosis with posterior dislocation of a hypoplastic radial head

IV, a short osseous synostosis with an anterior dislocation of the radial head.

Congenital radioulnar synostosis

Cleary and Omer

However, we noted no relationship between any of these patterns and function.We concluded that operative treatment of congenital radio-ulnar synostosis is rarely indicated, that less emphasis should be placed on the single factor of the position of the forearm

Congenital radioulnar synostosis

Congenital radioulnar synostosiscarpal bone rotatory hypermobility of

up to 45 deg is present but carpal instability does not become a problem

 40% fixed pronation < 30 degrees40% > 60 20% between 30 and 60 degrees

<30 degrees of fixed pronation usually do not need surgery

Congenital radioulnar synostosis compensatory rotation around the wrist and functional

results after rotation osteotomy, 40 cases mean pronation of the ankylosed forearm in those who

complained of disabilities in daily life was 60.7° and without complaints was 21.2°.

In almost all cases with total ankylosis, the forearm had compensatory movement around the wrist, the mean arc being from 76.3° of pronation to 42.9° of supination.

13 limbs in 11 patients treated by transverse rotational osteotomies through the fusion mass have followed up for over two years. The functional results after surgery were satisfactory in all patients. Rotational osteotomy of the forearm is a useful and reliable treatment for congenital radio-ulnar synostosis.T. Ogino1 and K. HikinoCongenital radio-ulnar

synostosis: Compensatory rotation around the wrist and rotation osteotomy Journal of the British Society for Surgery of the HandVolume 12, Issue 2, June 1987, Pages 173-178

Congenital radioulnar synostosis if surgery is to be done it is to improve position alone and is best

done prior to school age with a derotational osteotomy through the proximal synostosis

De-rotation of up to 45 degrees can be done at once but if greater, best in more than one sitting ◦ watch out for vascular compromise and go back ie ease off rotation if you

have to.

unilateral involvment, optimum final position is 20 deg of pronation  some authors believe nondom should be 20 supination… but that is

awkward  bilateral place the dominant arm in 20 pronation and tailor the non

dom in a kid place in neutral in an adult the nondominant arm MAY be tailored to the specific task…tricky though don’t try to overthink

Congenital radioulnar synostosis

Alternatives7 patients associated radial head dislocationsaverage age 8 all maleFree vascularized Fascio-Fat graftsRadial osteotomy

The Journal of Bone and Joint Surgery 80:1186-92 (1998)© 1998Mobilization of a Congenital Proximal Radioulnar Synostosis with Use of a Free Vascularized Fascio-Fat Graft*FUMINORI KANAYA, M.D. and KUNIO IBARAKI, M.D., OKINAWA JAPAN

Radioulnar synostoses

Radioulnar synostosisElbow slight flexion deformityForearm may also be shortRotational hypermobility at wristPronation in forearm fixed at:

◦40% less than 30 degrees◦40% more than 60 degress

Radioulnar synostosisPronation dictates functional loss

◦May not be noticed at young age in unilateral with little pronation contracture (avg. age dx at 2.5 years )

◦Difficulty using spoon, pencil or holding small object

◦Difficulty dressing◦Backhanded use of bottle or toy◦Sports difficulty

Radioulnar synostosisNonoperative

◦Less than 60 degrees◦Unilateral◦Compensatory intercarpal and

radiocarpal supination◦Kids do OK, parents and teachers

can be concerned

Radioulnar synostosisOperative

◦Resection, interposition, etc POOR◦Derotational osteotomy for those

fixed in greater than 60 degrees of pronation. Distal to coronoid Pin fixation Compartrment syndrome reported up to

36%

Radioulnar synostosis

If second pin used allow forquick removal if signs of vascular problem develops

Radioulnar synostosisEmbryionic common cartilaginous

analage separates into radius and ulna ( for a time the radius/ulna share common perichondrium)

Pronation predominatesUsually isolated eventMale/ female 3/280% bilateralAssociated syndromes

Radioulnar synostosisclassification

Original Type 1: proximal or true

radioulnar synostosis

radius and ulna are smoothly fused at their proximal borders for a variable distance.

Type 2: radioulnar synostosis

with congenital dislocation of the head of the radius in which the fusion is just distal to the proximal radial epiphysis.

Modified (Cleary et al., "Congenital Proximal Radio-Ulnar Synostosis." JBJS, 67-A:4, 1985.)

Type I: synostosis does not involve bone, associated with reduced radial head.

Type II: visible osseous synostosis, associated with normal reduced radial head.

Type III: visible osseous synostosis with a hypoplastic and posteriorly dislocated radial head.

Type IV: short osseous synostosis with an anteriorly dislocated mushroom shaped radial head.

Congenital Pseudarthrosis of the forearmLike tibiaRareOne or 2 bonesNeurofibromatosis

Does not “fade away” risk of malignant transformation still exists even after benign report

Elbow synostosisRAREHumerus with both radius and

ulna◦Primary failure of cavitation◦Absence of intrauterine elbow

motion◦Ulnar club hand◦Phocomelia variants

Cartilaginous synostosis

Bony ankylosis

Cartilaginous synostosis ulnar club hand

Phocomelia

Elbow synostosisOperative treatment

◦Synostosis excision and interposition are not likely to work

◦Osteotomy indicated for poor positioning of the hand in space

Radiohumeral synostosis

Complete Ulnar HemimeliaRadiohumeral synostosis and other

anomalies, associated with tridactyly and elbow malrotation

Abdulkadir AY, Adigun IA. Ulnar Hemimelia with Oilgodactyly: Report of Two Cases. Radiology Case Reports. [Online] 2009;4:240.

Dislocated Radial HeadIsolatedAssociated with other congenital

anomaliesAssociated musculoskelatal

anomalies

Dislocated Radial HeadMaroteux-LamyArthrogryposisCornelia de

Lange’sCraniofacial

dystosisDyschondroosteo

sisEhlers- DanlosKlinefelter’sLarsen’s

Mesomelic dysplasia

Multiple osteochondromatosis

Nai-patella syndrome

Rubenstein-TaybiSilver

Dislocated Radial HeadCongenital hip

dislocationClubfeetBrachydactylyClinodactylyTibial fibular

synostosis

Radial or ulnar club hand

Madelung’sFamilial

osteochondromatosis

Dislocated Radial HeadUsually posterior or

posterolateralUnilateral anterior can be

confused with acute cases

Dislocated Radial HeadPresent late after birth

◦Limited elbow extension◦Posterolateral prominence◦Activity pain◦Mld cubitus valgus

Dislocated Radial HeadNon operativeOperative

◦excision

Dislocated radial head

Dislocated radial head

Pterygium cubitale

Pterygium CubitaleWeb across antecubital fossaLoss of elbow extension

◦Involvement of all anatomic structures

◦Similar ro arthrogryposis◦AR and AD inheritance◦Associated anomalies

Nonoperative treatment

Pterygium cubitale

Pterygium cubitale

Psuedarthrosis forearm

Congenital Psuedarthrosis ForearmRare46 cases in literature

◦Ulna 20, Radius 15, both 11Neurofibromatosis

Pseudarthrosis forearm

Ulnar Dimelia

Ulnar Dimelia

Ulnar DimeliaTwo ulna no radiusRare 60 cases reportedUnilateralTwo ulnohumeral jointsElbow and forearm motion 50%

reduced

Ulnar DimeliaSurgery

◦Excise one olecranon Preaxial ( radial) Restores some elbow and forearm motion

Treat hand later

Ulnar Dimelia

Phocomelia“seal limb”Intercalary deficiencyVariableElbow may be dysplastic or

totally absentShoulder girdle often good1960’s Thalidomide

Phocomelia

PhocomeliaSurgery rarely indicatedProsthesis not helpful in many

cases but if it is to be worn, save do not take off fingers

Lengthening has been described◦Clavicular transpostion◦Fibular allograft

Thank you

Thank you