congforearmelbow2022andimbdef.pdf

Congenital Problems of the
Forearm and Elbow
Jeffrey C.Wint, M.D.
The Hand Center of Western Massachusetts

CONGENITAL PROBLEMS OF
THE FOREARM AND ELBOW
Jeffrey C.Wint, M.D.
@drwint
jwint@handctr.com
Office 413 733 2204

Sources
— Morrey,The Elbow and its Disorders
— Buck-Gramcko, Congenital Malformations
of the Hand and Forearm
— Peimer, Surgery of the Hand and Uper
Extremity

Upper limb deficiency
— Congenital
— Aquired

Embryology
— Synovial joint forms from 7 -10 weeks in
utero
— Enchondral 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 Development
— CRMTOL /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

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
• preaxial/ post axial
— – Dorsoventral

OMT classification
— Oberg, Manske and Tonkin
Epidemiology of Congenital Upper Limb
Anomalies in Stockholm, Sweden, 1997 to 2007:
Application of the Oberg, Manske, andTonkin
Classification
February 2014
The Journal of hand surgery 39(2):237-248

OMT
— Malformations
◦ subdivided according to whether the whole of
the limb is affected or the hand plate alone, and
whether the primary insult involves
– three axes of limb development and patterning or is
non-axial.
— Deformations
— Dysplasias
– Replacement for the Swanson International Federation
of Societies for Surgery of the Hand classification
system ( 1976)

Proximodistal Axis
— AER
— • 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 Axis
— Fibroblast growth factor
— • FGF-2, 4, 8
— • FGF 10- Transverse arrest
— • HOX genes
— • Absent HOX= absent distal elements
— • BMPs
— anything that disrupts FGF signaling and/or formation and
maintenance of the AER will result in arrested limb development
— dependent on HOX genes to specify each of the elements (e.g.
HOX11A,D specifies radius and ulna whereas HOX12A,D specifies
carpals). Disruption of HOX genes (via mutation or teratogens such as
retinoic acid or ethanol) will therefore result in the loss of specific limb
elements.
— Ventral (BMPs and Engrailed-1) and dorsal (Wnt7) signaling factors are
antagonistic and this is what sets up the AER specifically at the tip of the
limb bud, so disruption of D-V signals will not only affect D-V patterning,
but can also affect proximo-distal growth as well.

Embryology
• Loss of AER limb truncation or
transverse deficiencies

Embryology
• Loss of AER - limb truncation or
transverse deficiencies
— Limb growth along the proximodistal
(PD) axis is controlled by the apical
ectodermal ridge (AER), a specialized
epithelium that forms at the distal
junction between dorsal and ventral
ectoderm.

Amputations
— Below 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

Anterior-posterior
— Anterior-posterior here is in the embryological
sense
— “anterior” means toward the head.
— Holding the arms straight out with the thumbs
up, the thumb and radius are therefore “anterior”
whereas the little finger and ulna are “posterior.”
— A-P patterning is established by the Zone of
Polarizing Activity (ZPA) on the posterior
side of the limb (i.e. the little finger side).
— Shh signaling from the ZPA specifically signals
the formation of posterior elements.

ZPA
— Loss of the ZPA results in loss of
posterior elements

ZPA
— Signaling from the ZPA also essential for
maintaining the AER, so disruption of the ZPA
often results in dysregulation of limb growth (too
long if ZPA signals are upregulated; too short if
ZPA signaling is lost).
— Development proceeds such that posterior
elements (e.g. little finger/ulna) are formed
prior to anterior elements (e.g.
radius/thumb). Therefore, disruption of A-P
patterning and growth can also result in the
loss of anterior elements (e.g. loss of the
radius and/or thumb).
https://web.duke.edu/anatomy/embryology/limb/limb.html

— Key factors that regulate growth and
patterning of the limbs along the
anterior-posterior axis are:
— A.WNT signals from the neural tube.
— B. FGFs from the Apical Ectodermal
Ridge (AER) of the limb buds.
— C. SHH from the Zone of Polarizing
Activity (ZPA) of the limb buds.
— D. BMPs in the Ventral Ectoderm of
the limb buds.

— Key factors that regulate growth and
patterning of the limbs along the
anterior-posterior axis are:
— A.WNT signals from the neural tube.
— B. FGFs from the Apical Ectodermal
Ridge (AER) of the limb buds.
.
— D. BMPs in the Ventral Ectoderm of
the limb buds.

Amputations/BEA
— Passive 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
NOT A HARD NUMBER

Body powered prosthesis
— Harness
◦ MANY PATTERNS
◦ FIgure 8 - MOST COMMON
— Terminal Device
◦ Voluntary opening
– Set tension easier to grasp cant modulate
◦ Voluntary closing
– Can determine tension, harder to learn to control

ATTACHMENTS
— INSTRUMENT
— BICYCLE
— SPORT SPECIFIC
— WEIGHT LIFTING
— USE WITH BODY POWERED device
— OR passive SOCKET

Myolelectric
— Need to be a good user
— Must practice
— Typically heavier
◦ Harder with longer BEA stump

Myoelectric
— sEMG control
◦ No velocity control
◦ No fine touch modulation
◦ Challenge with sEMG signals is the poor
amplitude resolution and low signal-to-noise
◦ Many go back to body powered for certain
activity

ULTRASOUND
— Proprioceptive Sonomyographic Control:
◦ sonomyography, or ultrasound-based sensing
of mechanical muscle contractions

TMR
— Targeted Muscle Reinnervation
— Those interested in the procedure to
better control their prosthetic arm must
undergo a medical review to determine
their eligibility. :
— Amputation above the elbow or at
the shoulder within the last 10 years
— Stable soft tissues
— Willing to participate in rehabilitation

TMR
— Benefits ofTMR with Pattern
Recognition Myoelectric Control
◦ machine learning approaches to predict the
patient's intended movement
◦ algorithm learns which EMG patterns
correspond to each intended movement
◦ globally characterize the patient's
contractions

— Targeted Muscle Reinnervation in Children:
A Case Report and Brief Overview of the
Literature
— (Plast Reconstr Surg Glob Open 2021;9:e3986;
doi: 10.1097/GOX.0000000000003986;
Published online 17 December 2021.)
— In this case report, we review the current
literature and present the case of a 9-year-
old boy with a transhumeral amputation
secondary to a traumatic injury who
underwent acute TMR at the time of wound
closure.

Posterior view intraoperatively during the tMR
procedure showcasing transfer of the distal
radial nerve stump to a motor branch of the
lateral head of the triceps. a: adipofascial flap;
B: radial nerve; C: lateral head of the triceps;
D: long head of the triceps; e: motor branches
to the lateral head of the triceps.

Amputations/BEA
— Surgery
– Z plasty for constriction bands
– Kruckenberg
ú BILATERAL BLIND AMPUTEE
ú developing countries
◦ Transplantation

Kruckenberg procedure
Burkhard Heim 1925 –2001
German theoretical physicist

Kruckenberg
1917 German army surgeon Hermann
Krukenberg
http://www.jhandsurg.org/article/S0363-5023(12)01354-8/pdf

Kruckenberg
-stump over 10 cm long from
the tip of the olecranon
-mobile ulnohumeral jount no
elbow contracture
-directly on the strength of the
pronator teres
-sensibility of the skin
surrounding both ulna and
radius,
-mobility of the ulna and radius
at the PRUJ
-good psychological preparation
and acceptance.
J Bone Joint Surg Br.
1991 May;73(3):385-8.
The Krukenberg hand.
Garst RJ.

Krukenburg
66yo M who was born without bilateral hands and feet. At the age of 6 he underwent a Krukenberg procedure on the right
in Grand Rapids (assuming Dr. Swanson). He is incredibly functional – types 30 words a minute, writes for a local paper,
very successful. He more recently has noted a decrease in pinch strength on the side with the Krukenberg.
He was working with therapy which thought perhaps due to increased soft tissue in the area.
He was given a splint to assist with pinch but this doesn’t allow him the ability to care for himself – shoes, pick up coins, etc.
This is due to the radius and ulna not meeting as well as previously. I am attaching x-rays and a clinical photo
credit:Ericka Lawler

Transplant
— Thought not for pediatric patients
— (but one has been done)
◦ About 50 adult patients worldwide
◦ US 1999 first case
publicity

Phildelphia child hand transplant

Radioulnar synostosis
— Congenital Synostosis of Radius and Ulna
— Sandifort 1793 first anatomic description

Congenital radioulnar synostosis
— Upper limb bud 25-28 days
— End of growth and differentiation at 48 - 50
days
— Elbow 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

— etiology unknown
— genetic 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

— acropolysyndactlyly ( Carpenter's
syndrome)
— acrocephalosyndactyly ( Apert's)
— Arthrogryposis
— mandibulofacial dysostosis
— nondysfunctional sex chromosomal
abnormalities ie Klinefelter's syndrome
— Treacher Collins syndrome,
— Williams syndrome,
— amegakaryocytic thrombocytopenia,
— Holt-Oram syndrome.

— 3/2 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.

— tetralogy of fallot
— VSD hypoplasia of first and second ribs
and pectoral musculature
— microcephaly
— hydrocephalus
— encephalocele
— MR
— developmental delay
— hemiplegia

Associated hand anomalies
— thumb aplasia or hypoplasia
— polydactyly
— syndactyly
— congenital constriction ring

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.

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.

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

Pol J Radiol. 2010 Oct-Dec; 75(4):
51–54. Congenital radioulnar
synostosis – case report
Anna Siemianowicz,
1
Wojciech
Wawrzynek,
1
and Krzysztof Besle

— carpal bone rotatory hypermobility of up to
45 deg is present but carpal instability does
not become a problem
— 40% fixed pronation < 30 degrees
— 40% > 60
— 20% between 30 and 60 degrees
— <30 degrees of fixed pronation usually do
not need surgery

— 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
Hand
Volume 12, Issue 2, June 1987, Pages 173-178

— fixed forearm pronation
◦ average position is 30° of pronation
◦ wrist hypermobility
— compensatory motion
◦ shoulder abduction - compensates for loss of
active pronation
◦ shoulder adduction - compensates for loss of
active supination

— 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

— Alternatives
— 7 patients associated radial head dislocations
— average age 8 all male
— Free vascularized Fascio-Fat grafts
— Radial osteotomy
The Journal of Bone and Joint Surgery 80:1186-92 (1998)© 1998
Mobilization 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

— Elbow slight flexion deformity
— Forearm may also be short
— Rotational hypermobility at wrist
— Pronation in forearm fixed at:
◦ 40% less than 30 degrees
◦ 40% more than 60 degress

Pronation 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

— Nonoperative
◦ Less than 60 degrees
◦ Unilateral
◦ Compensatory intercarpal and radiocarpal
supination
◦ Kids do OK, parents and teachers can be
concerned

— Operative
◦ 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%

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

— Distal ulna and proximal radius
osteotomy
J Child Orthop. 2008 Dec; 2(6): 481–489.
Derotational osteotomy of the proximal radius
and the distal ulna for congenital radioulnar synostosis
Nguyen Ngoc Hung

Complications
— Compartment syndrome
◦ up to 36%
◦ associated with large rotational corrections > 60°
◦ close observation post-operatively
◦ prophylactic forearm fasciotomies in acute and/or
large deformity corrections
— Neurologic deficit
◦ PIN palsy - particularly with proximal (synostosis)
osteotomy
◦ AIN palsy
◦ radial nerve palsy
◦ higher risk with acute/large deformity correction
◦ most resolve within 3 months

J Pediatr Orthop. 2015 Dec;35(8):838-43..
— Safety and Efficacy of Derotational Osteotomy for
Congenital Radioulnar Synostosis.
— Simcock X1, Shah AS,Waters PM, Bae DS
— Goal of correction to 10 to 20 degrees of pronation
— All had prophylactic fasciotomy
— 31 forearms in 26 kids (13 bilateral, 13 unilateral) - mean age of 6.8
years (range, 3.0 to 18.8 y)
— preoperative pronation deformity 85 degrees
◦ (range, 60 to 100 degrees).
– The mean correction achieved was 77 degrees
– (range, 40 to 95 degrees),
– resulting in a mean final position of 8 degrees of pronation (range, 0 to 30 degrees)
– verall complication rate was 12% (2 transient anterior interosseous nerve palsies, 1
transient radial nerve palsy, 1 symptomatic muscle herniation). Both transient
anterior interosseous nerve palsies occurred in patients with rotational corrections
exceeding 80 degrees.

— 31 patients (36 forearms) with CRUS who underwent derotational
osteotomy at the proximal radioulnar synostosis site were evaluated.There
were 20 boys and 11 girls.The mean age at the time of surgery was
4.87 ± 3.06 (range, 2 to 13) years.The forearm was derotated to the goal
position (20 degrees of supination to 10 degrees of pronation) using plates
for internal fixation and plaster splints for external immobilization.
— J Orthop Surg Res. 2019 Mar 20;14(1):81. doi: 10.1186/s13018-019-1130-0.
— Efficacy and feasibility of proximal radioulnar derotational
osteotomy and internal fixation for the treatment of congenital
radioulnar synostosis.
—

— Embryionic common cartilaginous analage
separates into radius and ulna ( for a time the
radius/ulna share common perichondrium)
— Pronation predominates
— Usually isolated event
— Male/ female 3/2
— 80% bilateral
— Associated syndromes

— Evidence that nonsyndromic radioulnar
synostosis (RUS) is caused by sex chromosome
aneuploidy or by heterozygous variants in the
SMAD6 gene (602931) on chromosome 15q22.
— Radioulnar synostosis is a feature of certain
chromosome abnormalities, notably the triple X-
Y syndrome (XXXY). See pronation-supination of
the forearm, impairment of (176800).
— Radioulnar synostosis occurs in an autosomal
dominant syndrome with amegakaryocytic
thrombocytopenia; see RUSAT1, 605432.

Radioulnar Synostosis
Yang et al. (2019) performed exome sequencing on 117 patients with sporadic
radioulnar synostosis (RUS; 179300) and found significant enrichment for loss-
of-function variants in the SMAD6 gene.Yang et al. (2019) identified 22
SMAD6 rare variants (with a minor allele frequency of less than 0.0001) that
occurred in 22 nonsyndromic RUS patients. Logistic regression showed that
SMAD6 loss-of-function variants were significantly associated with increased
risk of nonsyndromic RUS (OR 430; 95% CI 237.5-780.1; p less than
0.000001). Segregation analysis was used to test whether these SMAD6
variants segregated with nonsyndromic RUS. Parental genomic DNA was
available for 11 probands with SMAD6 rare variants. Six were inherited from
the proband's unaffected mother and 1 was affected from the proband's
unaffected father.Additional sequencing detected 5 rare variants, 2 from 8
sporadic nonsyndromic RUS patients and 3 from 10 nonsyndromic RUS
families.Yang et al. (2019) identified a total of 27 rare variants (19 loss of
function and 8 missense) on SMAD6 that occurred in 24 of 125 sporadic
cases and 3 of 10 families with nonsyndromic RUS.Among the 19 loss-of-
function variants, 14 (73.7%) occurred in exon 1 of SMAD6, and 16 were
located in the N domain of the SMAD6 protein.Among the 8 rare missense
variants of SMAD6, 3 were located in the MH2 domain and 5 are evenly
distributed in the N domain section between amino acids 154 and 267.Yang et
al. (2019) identified 30 nonsyndromic RUS patients (sporadic and familial) who
harbored SMAD6 rare variants.Among them 25 were male and 5 were
female, for a male-to-female ratio of 5:1. In addition, 17 were affected by
bilateral RUS and 13 were affected by unilateral RUS (left 9, right 4).

Radioulnar Synostosis
— SMAD6 is frequently mutated in
nonsyndromic radioulnar synostosis
— YongjiaYang 1,Yu Zheng 2,Wangming Li 3, Liping
Li 2, Ming Tu 2, Liu Zhao 2, Haibo Mei 4, Guanghui
Zhu 4,Yimin Zhu 5
— As an intracellular bone morphogenetic protein
(BMP) antagonist gene, SMAD6 is frequently
mutated in nsRUS. NOG, which encodes an
extracellular BMP antagonist, is rarely mutated in
nsRUS.This work is the first genetic study on
nsRUS.

— Mobilization of a congenital
proximal radioulnar synostosis with
use of a free vascularized fascio-fat
graft.
— Kanaya F, Ibaraki K.
— J Bone Joint Surg Am. 1998
Aug;80(8):1186-92. PMID: 9730128

— this paper uses a single osteomy site in the radius
—
— J Shoulder Elbow Surg. 2018 Aug;27(8):1373-1379. doi: 10.1016/j.jse.2018.04.012.
— Long-term results after simple rotational osteotomy of the radius shaft for
congenital radioulnar synostosis.
—
— this paper a distal radius proximal ulnar osteotomy not in the synostotic mass
—
—
— J Pediatr Orthop. 2014 Jan;34(1):63-9. doi: 10.1097/BPO.0b013e3182a00890.
— Results of single-staged rotational osteotomy in a child with congenital
proximal radioulnar synostosis: subjective and objective evaluation.

classification
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.

Elbow synostosis
— RARE
— Humerus with both radius and ulna
◦ Primary failure of cavitation
◦ Absence of intrauterine elbow motion
◦ Ulnar club hand
◦ Phocomelia variants

Cartilaginous synostosis
ulnar club hand

Elbow synostosis
— Operative treatment
◦ Synostosis excision and interposition are not
likely to work
◦ Osteotomy indicated for poor positioning of
the hand in space

Complete Ulnar Hemimelia
— Radiohumeral 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 Head
— Isolated finding but bilateral
◦ 70 percent posterior
— Associated with other congenital
anomalies
— Associated musculoskelatal anomalies

— Maroteux-Lamy
— Arthrogryposis
— Cornelia de Lange’s
— Craniofacial dystosis
— Dyschondroosteosis
— Ehlers- Danlos
— Klinefelter’s
— Larsen’s
— Mesomelic dysplasia
— Multiple
osteochondromatosis
— Nai-patella syndrome
— Rubenstein-Taybi
— Silver

— Congenital hip
dislocation
— Clubfeet
— Brachydactyly
— Clinodactyly
— Tibial fibular
synostosis
— Radial or ulnar club
hand
— Madelung’s
— Familial
osteochondromatosis

P R S
— J Bone Joint Surg Am
— . 1993 Feb;75(2):259-64.
— doi: 10.2106/00004623-199302000-00013.
— A syndrome of dislocated hips and
radial heads, carpal coalition, and short
stature in Puerto Rican children
— H H Steel 1, R W Piston, M Clancy, R R Betz
—

Steel Syndrome
— J Pediatr Orthop
— .Apr-May 2010;30(3):282-8.
— doi: 10.1097/BPO.0b013e3181d3e464.
— Steel syndrome: dislocated hips and
radial heads, carpal coalition, scoliosis,
short stature, and characteristic facial
features
— John M Flynn 1, Norman Ramirez, Randal
Betz, Mary Jane Mulcahey, Franz Pino, Jose A
Herrera-Soto, Simon Carlo,Alberto S Cornier
dismal results for attempts at
reduction of the hips.

— Usually posterior or posterolateral
— Unilateral anterior can be confused with
acute cases
— bilateral involvement
— hypoplastic capitellum
— convex radial head
— other congenital anomalies
— lack of history of trauma

— Present late after birth
◦ Limited elbow extension
◦ Posterolateral prominence
◦ Can c/o Activity “pain” but often painless
◦ Mld cubitus valgus

— Non operative - #1 rx
— Operative
◦ Excision at adolescence
◦ WHY?
SOME STATE IT reduces pain
and may improve elbow ROM
but…

Pterygium Cubitale
— Web across antecubital fossa
— Loss of elbow extension
◦ Involvement of all anatomic structures
◦ Similar ro arthrogryposis
◦ AR and AD inheritance
◦ Associated anomalies
— Nonoperative treatment

Congenital Pseudarthrosis of the
forearm
— Like tibia
— Rare
— One or 2 bones
— Neurofibromatosis
Does not “fade away” risk of malignant
transformation still exists even after
benign report

Congenital Psuedarthrosis Forearm
— Rare
— 46 cases in literature
◦ Ulna 20, Radius 15, both 11
— Neurofibromatosis

Ulnar Dimelia
— Two ulna no radius
— Rare 60 cases reported
— Unilateral
— Two ulnohumeral joints
— Elbow and forearm motion 50% reduced

Ulnar Dimelia
— Surgery
◦ Excise one olecranon
– Preaxial ( radial)
– Restores some elbow and forearm motion
– Treat hand later

Phocomelia
— “seal limb”
— Intercalary deficiency
— Variable
— Elbow may be dysplastic or totally absent
— Shoulder girdle often good
— 1960’s Thalidomide

Phocomelia
— Surgery rarely indicated
— Prosthesis 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

Case Report
Congenital Deficiency of Distal Ulna and
Dislocation of the Radial HeadTreated
by Single Bone Forearm Procedure

(OBQ15.21) A 14-month-old child is brought into your office
because the mother has noticed reduced motion in the left upper
extremity.The child appears at ease, playing quietly by herself. She
abducts her shoulder to pick up building blocks on the ground.
Examination reveals normal elbow flexion and extension, but
diminished supination compared with the contralateral side.
Radiographs are shown
What is the next best step?

A. CT
B. MRI
C. Arthrocentesis
D. Reduction
E. Observation

A 7-year-old nonverbal boy with severe
Autism is brought to the emergency
department by his caretaker after noticing
a bump over the left elbow. She states that
the patient falls often but is not sure when
the bump first appeared. The patient
moves his bilateral upper extremities
spontaneously and without apparent
discomfort. Examination of his left elbow is
notable for a prominence over the
posterolateral elbow that is nontender.
Plain radiographs are pictured in Figures A
and B. What is the next best step in
management?
1Plain radiographs of the
contralateral elbow
2Closed reduction under
sedation
3Open reduction with
annular ligament
reconstruction
4Open reduction with
ulna osteotomy
5Radial head resection

Radiographs of a 15-year-old boy with a congenital condition of the left
elbow. His forearm is fixed in 75 degrees of pronation. If operative
treatment is undertaken with the goal of restoring motion, what step
should be included in the procedure to prevent recurrence of the
condition?
A Soft tissue reconstruction
B Interposition of material between radius and ulna
C Derotational osteotomy to fix the forearm in neutral position
D Postoperative radiation
E Postoperative casting

The parents of a 2-year-old girl are
concerned that their daughter has
difficulty feeding herself from a bottle.
They have noticed that she rotates her
elbow in front of her body when
trying to bring the bottle to her
mouth. Physical exam demonstrates 10
degrees of elbow hyperextension and
160 degrees of flexion.The forearm
does not actively or passively rotate.A
radiograph is provided in figure A.
Which of the following would be an
indication for a future surgical
intervention?
1 Forearm fixed in 45 degrees of pronation
2 Forearm fixed in 30 degrees of supination
3 Patient younger than 3 years of age
4 An affected older sibling
5 Bilateral involvement

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