Polydactyly - Alpha Hand Surgery Centre 2019-01-18آ  • Preaxial Polydactyly EJHS 1997 – Bakker,

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  • Polydactyly

  • Introduction

    • History • Classification • Prevalence • Genetics • Embryology • Surgical

    Reconstruction • Complex Polydactyly

  • History

    • Bible • Kerchringii 1670 • Wellman (JAMA 1972)

    – North American Indians • Multiple species

  • Classification

    • Temtamy & McKusick (Birth Defects 1969) – Postaxial Polydactyly Types A & B – Preaxial Polydactyly

    • Type 1: Thumb polydactyly • Type 2: Triphalangeal thumb polydactyly • Type 3: Index finger polydactyly • Type 4: Polysyndactyly

  • Classification • Graham & Ress (Hand Clinics 1998)

    I. Polydactyly of the thumb II. Polydactyly of the triphalangeal digits

    A. Index B. Polydactyly of the central rays C. Polydactyly of the ulnar hand and small digit

    III. Complex Polydactyly A. Ulnar dimelia B. Pentadactyly C. Hyperphalangism

  • Radial Polydactyly

    ! Wassel

    Classification

    ! !

    The Growing Hand

  • Ulnar Polydactyly

    • Temtamy & MuKusik – Type A – Type B

    • Stelling (1968) & Tureck (1967) – Type I – rudimentary masses – Type II – subtotal duplication – Type III – complete extra digit

  • Central Polydactyly

  • Prevalence • Finley et al (South Med J 1994)

    – 2.3:1000 white male – 0.6:1000 white female – 13.5:1000 black male – 11.1:1000 black female – 1:1000 Sweden

    • Lamb et al (JHS 1982) – 2.4 – 27.2% all types

    • Leung et al (JHS 1982) – 39.9% - most common

  • Prevalence

    • Wassel – 13% among all congenital anomalies. !

    • Mellin et al (Birth Defects, 1963) – 10.7:1000 African American – 1.6:1000 Caucasians

  • Prevalence

    • Radial – Estimated 0.08 – 1.4 per 1000

    • Tetmay & Mukisac (Birth Defects 1969) • Sesgin & Stark (Plast Reconstr Surg 1961)

    – Common - American Indians & Asian – Males > Females – Right > Left

  • Prevalence • Ulnar

    – Well formed – 1.24/1000 • Ruby & Goldberg (Ortho Clin North Am 1974)

    – Type B – 1.88/1000 • 67% Black parents • 24% White parents • Male to female 1.33:1

    – Watson & Hennrikus (JBJS 1997)

    – 10:1 Blacks vs Non-black

  • Genetics • Radial

    – Spontaneous mutations – Triphalangeal thumb – autosomal dominant

    • Ulnar – Autosomal dominant – White children – associated syndromes

    • Central – Autosomal dominant – Bilateral

  • Genetics • BMP 7 is expressed in the perichdrium of the

    developing phalanges and finger tip ectoderm. • BMP-7 expressed at high levels in the

    interdigital mesenchyme, which normally undergoes appotosis, loss of BMP-7 likely allows for survival of these cells. These survival cells can then give rise to an extra digit

    • Gli-3 • (Daluiski, et al JHS, 2001)

  • Case report

    • Preaxial Polydactyly EJHS 1997 – Bakker, et al

    • Leeds family • High penetrated Autosomal dominant trait • Linkage analysis was performed on this

    family material, and the phenotype described in this family is linked to chromosome 7q36.

  • number affected

    • Preaxial extra ray(s) 15/15 • Thenar hypoplasia, non-opposable 8/15 • thumbs 7/15 • Opposable thumbs 2/15 • Unilateral septadactyly 2/15 • Unilateral TPT 15/15 • Preaxial polydactyly of the feet 1/15

  • The Growing Hand

  • The Growing Hand

  • Embryology

    • Fetal limb – 26th day post • Final differentiation – 50th day • Interdigital spaces – 37th-47th • Stimulation of mesodermal tissue • Homeobox or Hox genes

  • Surgical Reconstruction

    • Radial, Ulnar, Central • Classifications • Factors

    – Timing – Goals

    • Outcomes

  • Thumb Duplication • Timing – 1-2 yrs of age • Goals

    – Adequate skeletal & soft tissue – Joint stability & motion – Thumb alignment – Tendon & muscle fxn – Cosmesis

    Surgical Reconstruction

  • Thumb Duplication

    • Preoperative Considerations – Function – Deviation – Joint Stability – Duplicate Size – Expectations

    • “Two thumbs” • Additional procedures

    Surgical Reconstruction

  • Distribution of Wassel Types of Thumb Duplication by Percentage

    Surgical Reconstruction

    Type Chicago (n=50)

    Iowa (n=70)

    Hong Kong (n=95)

    Osaka (n=156)

    Paris (n=50)

    I 6 2 6 5 2 II 12 15 17 16 18 III 10 6 9 9 8 IV 44 43 46 44 54 V 4 10 12 14 0 VI 6 4 3 3 4 VII 18 20 6 9 16

    Light (Hand Clinics 1992)

  • Wassel I & II

    Type I Type II

    Surgical Reconstruction

  • Wassel I & II

    • Hypoplastic Duplicates – Combine bones – Reconstruct nail matrix

    Surgical Reconstruction

    Bilhout-Cloquet

  • Wassel I & II

    • Large Duplicate(s) – Ulnar side – Preserve collateral lig – Centralize tendons – Osteotomy

  • Wassel I & II

    Surgical Reconstruction

  • Surgical Reconstruction

    Wassel I & II

  • Wassel III & IV

    Surgical Reconstruction

  • Wassel III & IV

    • Large Duplicate(s) – Ulnar side – Centralize tendons – Collateral lig

    • Hypoplastic Duplicates – Central incision – Osteotomies – Soft tissues align – Joints are stiff

    Surgical Reconstruction

  • Wassel V& VI

    Surgical Reconstruction

  • Wassel V& VI

    • Large Duplicate(s) – APB & FPB accessory – Detach musculature – Osteotomies – Four-flap Z-plasty

    • Hypoplastic – Reconstruction of 3

    bones & 3 Joints – On-top-plasty

    Surgical Reconstruction

  • Wassel VII

    • Triphalangeal Thumb – Several classifications – 1:25,000 live births – 2/3 bilateral – 50% thumb duplication – Reconstruction

    Surgical Reconstruction

  • Central Polydactyly

    • Index – Radial side – hypoplastic – Radial deviation – Interferes with thumb – Radial pinch

    • Long & Ring – Failure of differentiation – Multiple procedures

  • Ulnar Polydactyly

    • Type A – Level of duplication – Ulnar side ablated – Possible lig

    reconstruction – Muscle transfers

    Surgical Reconstruction

  • Surgical Reconstruction

  • Surgical Reconstruction

  • Ulnar Polydactyly

    • Type B – Suture ligature? – “Nipple-like” bump

    • Watson (JBJS 1997) – Revision amputation

    Surgical Reconstruction

  • Complex Polydactylies

    • Ulnar Dimelia – Mirror Hand Deformity – Absent thumb & radius – 7 digits – Pollicization, wrist

    flexion, & tendon transfers

  • Complex Polydactylies

    • Pentadactlyly – Five-fingered hand – MC distal physis – Triphalangeal digits – Develop web space – Pollicization

  • Outcomes

    • Long-term Results of Surgical Treatment of Thumb Polydactyly Ogino et al (JHS 1994) – Wassel Types III, V, VI, VII – Ulnar digit removed – Skill of surgeon