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management
Common Congenital Hand
anomalies
Christian Dumontier, MD, PhD
FWI- Guadeloupe
• « Absolute » : if surgical
reconstruction will interfere with
function (ex: centralization
procedure in a patient with poor
elbow function or with a primary
postaxial pinch).
Contraindications to surgery ?
• Relative : if reconstruction will only
improve cosmesis and not alter
function (ex: separating functionless
or stiff digits),
• Correct diagnosis
Referral to a specialized hand clinic where psychological, genetic and hand therapy input is available
and should be arranged as soon as possible after diagnosis.
How to handle patients with hand
anomalies (congenital differences)
• Treatment plan
Referral to a specialized hand clinic where psychological, genetic and hand therapy input is available
and should be arranged as soon as possible after diagnosis.
Correct diagnosis
• Isolated anomaly ?
• Syndromic disease ?
Classification
• Very questionable
(descriptive, difficulty to
classify many presentations,
do not take into account the
genetical basis,…)
Descriptive classification is difficult owing to
our limited knowledge of the pathophysiology
• Bulsulfan in rats
• Radial longitudinal
deficiency (RLD)
represents a spectrum of
abnormalities from
thumb hypoplasia alone
to the complete absence
of the radius.
James MA, Green HD, McCarroll HR Jr, et al. The association of radial deficiency with thumb hypoplasia. J Bone Joint Surg Am
2004;86(10):2196–205.
James MA, McCarroll HR Jr, Manske PR. The spectrum of radial longitudinal deficiency: a modified classification. J Hand Surg
[Am] 1999;24(6): 1145–55.
Evaluation of deficit ?
• Most children do very well with their congenital
differences
Schneuer FJ, Bentley JP, Davidson AJ, Holland AJ, Badawi N, Martin AJ, Skowno J, Lain SJ, Nassar N. The impact
of general anesthesia on child development and school performance: a population-based study. Paediatr Anaesth. 2018
Jun;28(6):528-536.
Timing of surgery ?
• As a rule, surgery is possible when he following criteria are
satisfied:
Rogala EJ, Wynne-Davies R, Littlejohn A, Gormley J. Congenital limb anomalies: frequency and aetiological factors.
Data from the Edinburgh Register of the Newborn (1964-68). J Med Genet. 1974 Sep. 11(3):221-33
Real incidence in population studies ?
• An 11-year total population study of Western Australia
• Prevalence of babies born with upper limb anomalies was 19.76 cases
per 10,000 live births.
Giele H, Giele C, Bower C, Allison M. The incidence and epidemiology of congenital upper limb anomalies: a total
population study. J Hand Surg Am. 2001 Jul. 26(4):628-34
Real incidence in population studies ?
• An 11-year total population study of the Stockholm region of Sweden
found an incidence of congenital anomalies of the upper limb of 21.5
cases per 10,000 live births.
• 54 % were boys
• Right side only in 30%, the left side only in 33%, and both sides in
37%.
Ekblom AG, Laurell T, Arner M. Epidemiology of congenital upper limb anomalies in 562 children born in 1997 to 2007:
a total population study from Stockholm, Sweden. J Hand Surg Am. 2010 Nov. 35(11):1742-54.
Real incidence in population studies ?
• 1993-2005 period
• Incidence was 5.56 per 10,000 births and 5.25 per 10,000 live births.
• Most common: radial ray deficiency (138), undergrowth (91), upper limb defects due
to constriction band syndrome (51), central ray deficiency (41), and ulnar ray
deficiency (33).
• Prevalence of upper limb defects in relatives of the census population was 2% (11 of
419).
• Infant mortality among children with upper limb deficiencies was 137 per 1,000 live
births, compared with an overall infant mortality of 3.7 per 1,000 live births in Finland.
•
Koskimies E, Lindfors N, Gissler M, Peltonen J, Nietosvaara Y. Congenital upper limb deficiencies and associated
malformations in Finland: a population-based study. J Hand Surg Am. 2011; 36(6): 1058–1065.
Real incidence in population studies ?
Sex 54% ⚦
Bilateral 37-52 %
Relatives up to 17 %
The 1-year mortality of patients with hand malformations is 14% to 18% due to associated
malformations involving the heart, kidneys, or tracheoesophageal complex
Radial club hand
4,6 %
Brachydactyly Hypoplastic thumb
5,2 % 3,5 %
Clinodactyly Central defects
5,5 % Polydactyly
3,9 %
Amputation 14,6 %
6,8 %
Camptodactyly
6,9 %
Syndactyly
18,2 %
Other
30,8 %
• Camptodactyly: < 1%
• Can be bilateral
• Prevalence in African
Americans estimated to be 1
in 143 live births (and 1 in
1339 live births in white)
• Postaxial polydactyly in a
white person is often
indicative of an underlying
syndrome (e.g., chondro-
ectodermal dysplasia or Ellis-
van Creveld syndrome)
Classification of post-axial
polydactyly
• Rare
• Isolation or part of a
syndrome (e.g, Grebes’
chondro-dysplasia)
Central polydactyly
• May be hidden within a
concomitant syndactyly
(i.e., synpolydactyly)
• Fully formed digit and normal function does not require removal
• Classification according to
Wassel, type IV representing
almost 50% of cases (type II
15% second most common)
This classification had some
limitations
• Tri-phalangism can involve
the radial, the ulnar or both
split thumb
• Suggested by abduction of
affected digit + absence of IP
joint crease
• Holt-Oram syndrome
• Fanconi’s anemia
• Blackfan-Diamond anemia
• Imperforate anus
• Cleft palate
• Tibial defects
Pre-op workup
• Nail widening ?
• MCP stability ?
• Intrinsic reconstruction.
• Same principles
Larsen M, Nicolai JP. Long-term follow-up of surgical treatment for thumb duplication. J Hand
Surg [Br] 2005;30(3):276–81.
Syndactyly
Christian Dumontier, MD, PhD
Guadeloupe - FWI
• Complete:
• Incomplete:
• Simple:
• Complex:
• Complex complicated:
Classification
• Involvement of nail
• Other anomalies ?
• Medical conditions
• Zig-zag incisions
Cronin T. Results of zigzag incision to prevent postoperative contracture. Plast Reconstr Surg. 1956;18(6):460-8.
Incomplete
syndactyly
• By secondary healing
(increase the risk of
hypertrophic scar)
• Skin substitute
Direct closure
• Ekerit
• Hsu et al.
• Many authors have published • Shaw et al.
• Sherriff
• Suppose some defatting of the • Tadiparthi et al
finger • Yao et al.
• Greuse and Coessens
• Sahin et al.
• Suppose skin tension • Teoh et Lee
• …
Example of a flap designed to
match the hourglass shape of
the web
Ni F et al. The Use of an Hourglass Dorsal Advancement Flap Without Skin Graft for Congenital Syndactyly. J Hand
Surg Am. 2015;40(9):1748-1754
Other technical difficulties
• Distal division of neurovascular bundles
From Green
Other technical difficulties
• No physiotherapy
• Scar management
Outcomes
• Acceptable outcome with independent
digits that are freely mobile is usually
achieved with separation of simple
syndactyly.
• No early complications
Ni F et al. The Use of an Hourglass Dorsal Advancement Flap Without Skin Graft for Congenital Syndactyly. J Hand
Surg Am. 2015;40(9):1748-1754
D’Arcangelo M, Gilbert A, Pirrello R. Correction of syndactyly using a dorsal omega flap and two lateral and volar flaps:
a long-term re- view. J Hand Surg Br. 1996;21(3):320-324.
10 years FU in a patient operated at age 20
Early Complications
• Vascular compromise,
• Infection,
• Wound dehiscence,
• Graft loss
Early Complications
• 1656 cases, 30 days post, overall incidence of
complications (simple syndactyly, complex syndactyly,
and polydactyly) was 2.2% (McQuillan);
• Readmission (0.3%).
Canizares MF, Feldman L, Miller PE, Waters PM, Bae DS. Complications and Cost of Syndactyly Reconstruction in the
United States: Analysis of the Pediatric Health Information System. Hand (N Y). 2017 Jul. 12 (4):327-334.
Late Complications
• Joint contractures
• Unaesthetic nail
reconstruction
• Unaesthetic grafts
Web Creep
• Most frequent complications
• Scar contraction
Withey SJ, Kangesu T, Carver N, Sommerlad BC. The open technique for the release of syndactyly. J Hand Surg Br.
2001;26(1) :4-7
Skin graft problems
• Discoloration
• Hypertrophic scars
• Sometimes hairy at
adolescence
Skin substitute
Landi A, Garagnani L, Leti Acciaro A, Lando M, Ozben H, Gagliano M. Hyaluronic acid scaffold for skin defects in
congenital syndactyly release surgery: a novel technique based on the regenerative model. J Hand Surg Eur 2014;39(9):
994-1000