Brachydactyly, Macrodactyly, Amniotic band syndrome
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1 Brachydactyly, Macrodactyly, Amniotic band syndrome
2 Brachydactyly
3 Brachydactyly Short finger where all the elements of digital skeleton are present but one or more reduced in size
4 Brachydactyly Brachytelophalangy Brachymesophalangy Brachybasophalangy Brachymetacarpia distal middle proximal metacarpal
5 Epidemiology Commonly as a feature of congenital hand anomolies Rarely the dominant feature, inherited anomaly Noncongenital injury to growth plate from trauma, infection, frostbite
6 Pathology Ch2q Brachydactyly E Ch9q22 Brachydactyly B Indian hedgehog gene Brachydactyly A1 Growth differentiation factor 5 Brachydactyly C Cartilage derived morphogenetic protein
7 Modified Bell classification Type A A1 Farabee A2 Mohr-Wreidt A3 Bauer clinodactyly A4 Temtamy A5 Bass Type B Mackinder Type C Drinkwater Type D Breitenbecher (Stub thumb) Type E Bell Other
8 ! Middle phalanges short, rudimentary or fused with distal phalanges Short proximal phalanx thumb and big toe A1 Farabee
9 Rarest Short index finger and 2 nd toe A2 Mohr- Wriedt
10 A3 Bauer (clinodactyly) Short middle phalanx with ulnar drift
11 Middle phalanges of IF, SF Radial deviation of distal phalanges Feet often involved A4 Temtamy
12 Absent middle phalanges, hypoplastic nails & toes A5 Bass
13 Type B Mackinder Hypoplasia of distal phalanges IF-SF Absent fingernails Feet involved but less severe Occasional syndactyly
14 Type C Drinkwater Middle phalanges IF and MF short Middle phalanx SF triangular and short Ulnar deviation IF Hyperphalangism of IF and MF RF uninvolved and stands out as longest digit
15 Type D Breitenbecher (stub thumb) Distal phalanx of thumb Base is broader than head of prox phalanx Early closure of growth plate
16 Type E Bell Short metacarpals, normal length phalanges +/- metatarsal shortening
17 Clinical features Severity of digital shortening variable! MC phalanx middle! MC digits small and index
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21 Management Lengthening of shortened digit Immediate with bone grafting Gradual distraction
22 Distraction osteogenesis Concomitant soft tissue lengthening Up to 15 mm without need for graft! Time consuming, requires cooperation of patients, parents Ex-fix for up to 4 months for consolidation
23 Management Short phalanges Usually avoid surgery Function preserved Lengthening difficult w/ stiff, contracted digits Immediate lengthening if associated deformity (angulation)
24 Management Short metacarpal Distraction lengthening Transverse osteotomy, wound closed Distraction begins 4-7 days mm twice a day Frame removed when consolidation of metacarpal! Immediate lengthening
25 Tajima
26 Buck-Gramcko
27 Macrodactyly
28 Macrodactyly Disproportionately large digit noted at birth or within first years Uncommon, usually sporadic Sometimes a feature of neurofibromatosis
29 Pathology Etiology unknown Abnormal nerve supply > unimpeded growth Increased blood supply Abnormal humeral mechanism stim growth! ** MC type associated with fatty infiltration and enlargement of nerve Nerve territory oriented macrodactyly
30 Palmar aspect more affected than dorsal Distal more enlarged than proximal Tendon normal but sheath enlarged Thickened skin, fatty infiltration of nerve w/ endo and perineural fibrosis Exostoses
31
32 Growth rate Static (macrodactyly simplex congenita) Present at birth In proportion during child s growth! Progressive (macrodactyly dystrophia lipomatosa progressiva) More common Not apparent until 2 y/o Disproportionate and rapid growth Involves palm (swelling of median nerve) by 3-4 y/o
33
34 Type I - Lipofibromatosis MC type Usually unilateral Multiple digital enlargement 2-3 x MC than single digit Preference for median n. territory IF 37% LF 30% Thumb 18% RF 12% SF 3% If all digits eval for hemihypertrophy Radial deviation
35 Lipofibromatosis Osseous growth until physeal closure Soft tissue growth into adulthood! Soft tissue swelling palm > compression neuropathy Thickening of flexor sheath > triggering
36
37
38 Type II - Neurofibromatosis 1: live births! Neurocutaneous syndrome Six or more café-au-lait spots Fibromatous skin tumors Multiple neurofibromas on peripheral nerves
39 Type III - Hyperostosis Nerves normal, however follows median nerve territory Nodular transverse enlargement Bilateral Rapid loss of motion secondary to periarticular mass formation ~ puberty
40
41 Type IV - Hemihypertrophy Enlargement of digits less severe Deformities Flexion contractures (MPJ) Ulnar deviation Adduction deformity of thumb Abnormal muscle origins / insertions Vascular insufficiency or malformations Association w/ renal, adrenal and brain tumors
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43 Limiting digital growth Ligation of digital arteries Compression bandaging Stripping digital nerves Epiphysiodesis When digit is adult length of same sex parent Deviation corrected with closing wedge osteotomy
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45 Reducing the digit Debulking, one side at a time Midlateral incision Neurovascular bundle dissected Fat, excess skin excised Narrowing of skeleton Burring or longitudinal ostectomy Osteotomy to correct deviation or shorten
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47
48 Reducing the digit Preservation of nail with shortening Barsky Flatt Tsuge Rosenberg! Ray amputation
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50
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52 Macrodactyly management Type I & II Early debulking w/ nerve stripping Epiphyseal fusion, length reduction when similar size digit of parent Type III Early excision of masses, palmar plate before joint motion blocked Arthroplasty / arthrodesis Type IV Night splinting, stretching (prevent contractures) Debulking grossly hypertrophic intrinsics Extensor tendon centraliziation
53 Macrodactyly Devastating anomaly Multiple procedures required with usually unsatisfactory results Consider ray amputation early
54 Amniotic band syndrome
55 Amniotic band syndrome AKA Amniotic disruption sequence Constriction ring syndrome! Partial or complete circumferential constrictions around limbs or digits
56 Amniotic band syndrome 1: ,000 Associated w/ (20-50%) Talipes equinovarus (clubfoot) Cleft lip, palate Hemangioma Meningocele Cranial or cardiac defects
57 Etiology Rupture of amniotic membrane Part or all of fetus lies outside amnion, between it and chorionic membrane < 45 days abortion > 45 days severe limb abnormalities! Amniotic disruption Release of amniotic bands that encircle and strangulate limbs or parts of limbs
58 Clinical features Circumferential or incomplete and can occur anywhere on body Proximal structures normal Pseudosyndactyly Distal digit fusion Proximal sinus cleft
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60
61 Clinical features Deep structures affected Veins, lymphatics > edema Nerve > motor, sensory defects Bone > skeletal narrowing
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63
64
65 Management Simple ring constriction Complicated ring constriction Distal edema Two rings close together Rings with deep structural damage Ring constriction with syndactyly Ring constriction with intrauterine amputation Stump refashioning On-top plasty Free toe transfer
66 Simple ring constriction Excise deep part of constriction Z-plasty
67
68 Complicated ring constriction Distal edema Indicates venous / lymphatic obstruction Urgent surgical treatment Z-plasty Two rings close together If won t interfere with Z-plasty do at same time Tx one at time, if distal edema perform second within weeks
69
70 Complicated ring constriction Rings with deep structural damage Early correction to limit neurological damage Explore nerves to evaluate for fascial bands
71 Ring constriction with intrauterine amputation Structures proximal to constriction normal ~ reconstruction Stump refashioning
72 Ring constriction with intrauterine amputation On-top plasty Limited role Sacrifice one ray to augment another Usually for thumb reconstruction such as 2 nd metacarpal when IF missing Microvascular free-toe transfer Thumb when absent at MP level
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