Mano en Artrogriposis
Mano en Artrogriposis
Mano en Artrogriposis
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methods or the best procedures appropriate for the medical situation(s) discussed, but Clinical features of distal arthrogryposis in the hand.
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Distal arthrogryposis is the second most common type of arthrogryposis after amyoplasia and
is defined as arthrogryposis that affects hands and feet; it is mostly inherited in an autosomal-
dominant fashion. This review discusses up-to-date background information, clinical features,
and treatment of distal arthrogryposis in hands concentrating on camptodactyly, thumb-in-
palm deformity, and windblown hand deformity, which are the most common and func-
tionally limiting deformities. Treating these deformities should be individualized and follow a
multidisciplinary approach. Most deformities can be initially treated nonoperatively, and if
not responsive, operative treatment may be pursued to improve function. Surgery primarily
From the *Alhada Hospital for Armed Forces, Taif, Saudi Arabia; and the †Department of Corresponding author: Sebastian Farr, MD, Department of Pediatric Orthopaedics and
Pediatric Orthopaedics and Foot and Ankle Surgery, Orthopedic Hospital Speising, Vienna, Adult Foot and Ankle Surgery, Orthopaedic Hospital Speising, Speisinger Strasse 109, 1130
Austria. Vienna, Austria; e-mail: [email protected].
Received for publication May 12, 2021; accepted in revised form October 19, 2021. 0363-5023/22/4705-0008$36.00/0
https://doi.org/10.1016/j.jhsa.2021.10.027
No benefits in any form have been received or will be received related directly or indirectly
to the subject of this article.
aims to release soft-tissue contractures, rebalance muscle forces, and may need bony
correction based on the deficits of each case. Current literature suggests that early treatment
leads to better outcomes. However, reported cases are scarce, and no consensus or gold
standard for treatment exists. Therefore, long-term (multicenter) studies are needed to assess
outcomes and standardize the treatment of such deformities whenever possible. (J Hand Surg
Am. 2022;47(5):460e469. Copyright 2022 by the American Society for Surgery of the
Hand. All rights reserved.)
Key words AMC, clasped thumb, distal arthrogryposis, thumb-in-palm, windblown hands.
D
ISTAL ARTHROGRYPOSIS (DA), defined as ar-
throgryposis affecting the hands and feet, Syndromic camptodactyly is more severe, affects
refers to a large group of specific and het- multiple fingers, and often occurs bilaterally (Fig. 2).6
erogeneous syndromes.1 It is the second most com- In general, functional limitations are caused by a
mon form of arthrogryposis after amyoplasia and decrease in range of motion with blocking of the
accounts for approximately 20% of arthrogryposis palm during grasping and limited finger extension
cases (Fig. 1).1 Distal arthrogryposis is typically in- (Fig. 2).4 Proximal interphalangeal joint deformities
herited in an autosomal-dominant manner, and may be associated with compensatory meta-
several DA types are associated with gene mutations carpophalangeal (MP) joint extension, distal inter-
in sarcomeric muscle proteins, such as troponin, phalangeal joint extension (boutonniere deformity),
myosin, and tropomyosin. Distinct gene mutations and WBH.4,5 The most common presenting
may lead to different types of DA, and one DA complaint is dissatisfaction with appearance, fol-
may be caused by mutations in more than one gene, lowed by functional limits (eg, typing, wearing
suggesting varying clinical expression and gene gloves, writing, and playing piano).5,6
penetrance (Table 1).2 Non-operative treatments like stretching, exer-
Primary diagnostic criteria for upper and lower cising, serial casting, dynamic orthosis fabrication,
limbs have been established, of which 2 or more are and static orthosis fabrication are the mainstay of
required to be present to diagnose DA (Table 2). therapy.5 Continuous re-evaluation and orthotic
However, when a first-degree family member (ie, a adaptions are necessary throughout childhood, espe-
parent or sibling) fulfills these diagnostic criteria, cially during periods of accelerated growth, such as
other family members with at least one major diag- puberty. Operative treatments are reserved for pa-
nostic criterion are considered affected.2 tients who are unresponsive to non-surgical treatment
The main hand deformities found in DA and dis- and have functional limitations and proximal inter-
cussed in this review article include camptodactyly of phalangeal joint flexion deformities > 50e60 . Sur-
multiple fingers, thumb-in-palm deformity, and gical treatment provides better results when a
windblown hands (WBHs).2 According to the latest stepwise intraoperative approach is followed during
version of the Oberg-Manske-Tonkin classification, it soft-tissue release. We found the algorithm shown
is classified as III.C.i.b.3 in Figure 3 to be useful in practice.5 The contrain-
dications for this soft-tissue surgery are flattening of
the condyles of the proximal phalanx and the inability
CAMPTODACTYLY to adhere to postoperative therapy and/or orthoses
Camptodactyly may be defined as a non-traumatic wear. Bony Procedures like arthrodesis and/or
proximal interphalangeal joint flexion contracture osteotomy are indicated if bony changes like flat-
with ineffective active extension, intrinsic and tening and parrot beaking of proximal phalanx head
extrinsic tendon shortening, and skin defects in the are present.5 Families should be counseled that the
palmar aspect of the fingers.4 Its true incidence is finger will not become completely normal and that
unknown but it reportedly occurs in approximately some flexion deformity is likely to persist.4 Previous
1% of the population and all variants of arthrogry- studies show inconsistent outcomes regarding the
posis.4,5 Syndromic camptodactyly (such as arthrog- recurrence rate of camptodactyly in general. A recent
ryposis) has rarely been mentioned in isolation but is study showed good results with corrective and
FIGURE 1: Types of congenital contractures. Reprinted with permission from Bamshad et al.2
shortening osteotomy of the proximal phalanx in Type 2 - flexed CMC joint and extended MP joint
syndromic camptodactyly types.6 Although some Type 3 - flexed CMC and MP joints
studies showed improved outcomes after syndromic
Each type may further be divided as A or B
camptodactyly surgeries, recurrence has been
based on the possibility of passive correction of the
mentioned in about a quarter to half of patients.7,8
MP joint.
Based on this classification, the authors suggested
THUMB-IN-PALM DEFORMITY an algorithm for treatment. The first step is to assess
the CMC. If it is extended, no correction is neces-
This is often called “clasped thumb” and is character-
sary, but if it is flexed, a correction osteotomy
ized by supination, adduction, and flexion contracture
should be performed at the metacarpal base. The
of the thumb with tight first web space and extensor
second step is to assess the MP joint. If it is
tendon weakness. The patient may adapt some func-
extended, no correction is necessary, but if it is
tion; however, pinch or grasp may be heavily affected
flexed, then an extensor indicis proprius to extensor
with the thumb opposing only the palm, but not the
pollicis longus transfer should be done if it is
fingers.9e11 It commonly includes interphalangeal joint
passively correctable. If it is not passively correct-
flexion, MP joint flexion, and carpometacarpal (CMC)
able, a chondrodesis should be performed (Figs. 4,
joint extension. However, patients with arthrogryposis
5). The osteotomy at the base of the metacarpal
may demonstrate different contractures than those with
bone aims to produce abduction, extension, and
classic deformities.9 These include an abnormally
pronation as per intraoperative assessment. The
contracted first web space, palmar skin, and intrinsic
eventual goal is to provide a thorough opposition to
musculature, attenuated extrinsic tendons, and joint
reach the other fingers. Shortening may be added at
stiffness.9 Contracture severity and type vary largely
times to overcome volar contracture. This may also
among patients. Treatment is nonsurgical or surgical
be achieved by chondrodesis.9,11
(only in cases of functional impairment) and must be
Repositioning of the thumb requires a thorough
individualized through a multidisciplinary approach
release of fibrous bands and lengthening of the first
comprising a team of surgeons and occupational and
dorsal interosseous and adductor muscles. In certain
physical therapists.9
cases, the flexor pollicis longus (FPL) tendon may
Zlotolow et al9 provided a new classification for
have to be lengthened by Z-lengthening in the fore-
this deformity:
arm, intramuscular tenotomy, or by tenotomy and
Type 1 - extended CMC joint and flexed MP joint suturing it into the index tendon if the FPL is
DA1 TNNI2, TPM2, MYBPC1, 108120 Only hand and feet are
MYH3 affected (adducted
thumbs, ulnar deviation
of MP joints, normal
facies)
DA 2A Freeman Sheldon syndrome MYH3 193700 Whistling face syndrome
(distinctive facies,
flexion and ulnar
deviation of the fingers)
DA2B Sheldon Hall syndrome TNNI2, TNNT3, TPM2, 601680 Distinctive facies, flexion
MYH3 and ulnar deviation of
the fingers, vertical talus
DA3 Gordon syndrome PIEZO2 114300 Cleft palate, finger
contractures, clubfoot
DA4 609128 Scoliosis, finger
contractures
DA5 PIEZO2, ECEL1 (for DA5 108145 Limited ocular motility,
without ptosis, finger
ophthalmoplegia) contractures
DA6 108200 Sensorineural hearing loss,
finger contractures
DA7 Trismus pseudo-camptodactyly MYH8 158300 Inability to fully open
mouth, facultative
camptodactyly
DA8 Autosomal- dominant multiple MYH3 178110 Multiple pterygiums,
pterygium syndrome finger contractures
DA9 Congenital contractural arachnodactyly/ FBN2 121050 Ear deformity, finger
Beals syndrome contractures
DA10 Congenital plantar contractures 187370 Toe walking, short
Achilles tendon, elbow
contracture
ECEL1, neuronal endopeptidase; FBN2, fibrillin-2; MYBPC1, myosin binding protein C1; MYH3, embryonic myosin heavy chain 3; MYH8, fetal
myosin heavy chain 8; PIEZO2, piezo type mechanosensitive ion channel component 2; TNNI2, troponin I subunit; TNNT3, troponin T subunit;
TPM2, tropomyosin 2, or b-tropomyosin (1,2). Also see: OMIM. Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute of
Genetic Medicine, Johns Hopkins University (Baltimore, MD). Available at: https://omim.org/ 2021
FIGURE 2: Young patient with mild ulnar deviation of wrist and the middle, ring, and little fingers and multiple bilateral finger
contractures. Note the missing joint creases and impaired fist grip due to stiffness.
FIGURE 3: Surgical soft-tissue release steps in managing camptodactyly.5 DIP, distal interphalangeal joint; FDS, flexor digitorum
superficialis; PIP, proximal interphalangeal joint.
FIGURE 4: A patient with DA and WBHs. Note the ulnar finger deviation in the native radiograph, tight first web space (arrowhead),
MP flexion contracture of the thumb and the index, middle, ring, and little fingers. Previous extensor indicis proprius transfer and FPL
lengthening were not strong enough to achieve sufficient active thumb extension. The finger deformity is well-maintained and
correctable using orthosis.
FIGURE 5: The same patient from Figure 4 received soft-tissue release as described by Mahmoud et al23 and MP chondrodesis of the
thumb.
grading system cannot be done without surgical Some have suggested that the cause of thumb
exploration, and all these structures need to be deformity is related to weak or absent thumb exten-
released during correction of the deformity.12 sors and/or instability of the MP joint and that the
abnormality of the thumb consequently leads to
Etiology pushing of other fingers to the ulnar side.15 In one
The precise etiology of congenital WBHs is un- study, the biopsies of 2 patients who had Freeman
known; however, studies have shown a sporadic Sheldon syndrome had shown fatty infiltration,
occurrence while others have found an autosomal- fibrosis, atrophy, and thickened contracted joint
dominant inheritance pattern with variable pene- capsules, which were suggested to be the causes of
trance that frequently occurs in certain families.13,15 the deformities.13 In another study, Vanĕk et al19 had
A report suggested that this deformity is caused by observed similar findings through biopsies and elec-
the persistence of atavistic intrinsic musculature tromyograms of Freeman Sheldon syndrome cases
originating from the palmar aponeurosis and inserting and had concluded that a congenital myopathy
distally into the extensor mechanism or by impaired seemed to be the primary cause of the deformities.
rotation of extremities during embryological devel- Some cases have been described to be associated
opment.16 Zancolli and Zancolli had attributed the with muscle hypertrophy, in which anomalous
ulnar drift and flexion deformities to “malformation musculature acts on the proximal phalanx and leads
of the retaining ligaments, or retinaculum cutis,” to ulnar deviation of the fingers.13 In these cases, no
namely the mid-palmar fascia and natatory ligaments. thumb deformity is present, and they are usually
They had demonstrated that these cords on the ulnar unilateral; treatment comprises resection of the
side might be the underlying cause of ulnar devia- aberrant muscles.13 There are also a few other
tion.18 Other authors have also found extrinsic studies that have shown another cause, such as a
tightness in the form of extensor tendon underde- primary ossification disorder leading to finger
velopment and tightness of flexor tendons.15e17 deviation.16
Kalliainen et al21 had reported 18 hands, one of 5. Yannascoli SM, Goldfarb CA. Treating congenital proximal inter-
phalangeal joint contracture. Hand Clin. 2018;34(2):237e249.
which was treated by early orthosis fabrication with 6. Park BK, Kim HW, Park H, Park MJ, Hong KB, Park KB. One-stage
good results. Two patients had refused surgery, and extension shortening osteotomy for syndromic camptodactyly. J Clin
the remaining 15 hands had been treated surgically, Med. 2020;9(11):3731.
of which some had undergone preoperative orthosis 7. Bennett JB, Hansen PE, Granberry WM, Cain TE. Surgical man-
agement of arthrogryposis in the upper extremity. J Pediatr Orthop.
fabrication to improve thumb-index web space. The 1985;5(3):281e286.
authors recommended surgical treatment before 3 8. Yonenobu K, Tada K, Swanson AB. Arthrogryposis of the hand.
years of age to minimize the development of articular J Pediatr Orthop. 1984;4(5):599e603.
9. Zlotolow DA, Tiedeken NC. Reorientation osteotomy for the atypical
and bony deformities and limit maladaptive learned clasp thumb in children with arthrogryposis. Tech Hand Up Extrem
behaviors. No patients achieved excellent results Surg. 2014;18(4):165e169.
(normal function and appearance), 5 hands achieved 10. Ezaki M, Oishi SN. Index rotation flap for palmar thumb release in
arthrogryposis. Tech Hand Up Extrem Surg. 2010;14(1):38e40.
good results, and 10 hands achieved fair results. 11. Abdel-Ghani H, Mahmoud M, Shaheen A, Abdel-Wahed M. Treat-
Better results were obtained with tendon centralizing, ment of congenital clasped thumb in arthrogryposis. J Hand Surg Eur
intrinsic crossed transfer, and intrinsic release of the Vol. 2017;42(8):794e798.
thumb. The authors had recommended first meta- 12. Wood VE, Biondi J. Treatment of the windblown hand. J Hand Surg
Am. 1990;15(3):431e438.
carpal realignment and dorsal flaps to widen the first 13. Wood VE. Another look at the causes of the windblown hand.
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14. Gavaskar KGAS, Chowdary N. Surgical management of windblown
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SUMMARY 15. Neser C, Graewe FR, Carter SL. The windblown hand and its
surgical management. J Plast Surg Hand Surg. 2016;50(3):
The main features of DA in hands are thumb-in-
142e145.
palm, camptodactyly, and WBH deformities. 16. Grünert JG, Jakubietz M, Polykandriotis E, Langer M. The wind-
Treatment of DA should be individualized and blown handediagnosis, clinical picture and pathogenesis. Handchir
covered by multidisciplinary teams to achieve Mikrochir Plast Chir. 2004;36(2e3):117e125.
17. Rayan GM, Upton J. Congenital ulnar drift (windblown hand). In:
optimal results. Most arthrogrypotic hand deformity Rayan GM, Upton J, Congenital, eds. Hand Anomalies and Associ-
surgeries result in better outcomes if performed ated Syndromes. Springer-Verlag; 2014:263e277.
during the early years of life using bony and/or soft- 18. Zancolli E, Zancolli E Jr. Congenital ulnar drift of the fingers.
Pathogenesis, classification, and surgical management. Hand Clin.
tissue interventions. 1985;1(3):443e456.
19. Vanĕk J, Janda J, Amblerová V, Losan F. Freeman-Sheldon syn-
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