fetal anomalies of the hands and feet - pedrad.org · radial ray sequence, clenched hand, club...
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Fetal anomalies of the hands and feet
Françoise Rypens, MD, FRCPC
Orlando 2013
Department of Medical ImagingSte-Justine Mother-Child University Hospital CenterUniversity of Montreal, Quebec, Canada
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Introduction• Limb malformations:
0.6 % fetal US0.49 – 3.5/10000 live birthsUpper > lower 2:1Uni > bilateral 4:1
• Difficult to recognize, often overlooked
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Introduction• Spectrum:
simple / complexisolated / associated
• Importance of detection:functional & psychosocial impactdiagnostic & pronostic significance
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May be the clue for a specific Δ
Acrocephalosyndactyly, Pfeiffer type
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Objectives• To emphasize the necessity of a systematic examination
• To review the normal appearance
• To discuss major hands & feet anomalies:significanceprenatal work-updifferential diagnosis
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US examination: when?• Best timing: late 1st trim – early 2nd trimester• 3rd trim:
closed handsless relative amniotic fluidhidden parts
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US examination: how?• Systematically
proximal – distal4 limbspresence, morphologyposition, motionproportions
• 2D abdo /transvag, 3D complementary, (MRI)
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Normal appearance• 8-9 wga: limb buds• 10-11 wga: appendicular long bones, phalanges• 12-13 wga: metacarpals, metatarsals• 20-24 wga: calcaneum, talus
• Other ossification centers after birth
(Mahony, J Ultrasound Med 1984)
24 wga
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Premature appearance of ossification centers
• Diffuse:chondrodysplasia punctataWarfarin
• Tarsal location:N (artifact)aneuploidiesIUGR
Normal
19 wga, chondrodysplasia punctataCondradi-Hunermann
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Hands & feet anomaliesAbsence
aN morphology
aN number
aN size
Alignment aN
aN motion
(Rypens, Radiographics 2006)
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Absence: e.g.: amniotic constriction band
• 1/56 fetuses – 1/1200 live births• Unknown etiology:
Intrinsic germline aNVascular disruption eventEarly amnion rupture
• Disruptions, deformations & malformations:Simple groove → amputationacrosyndactylycranial defects, body wall defects…
?
(Goldfarb J Bones & Joint Surg 2009)
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Amniotic constriction band• ASYMMETRICAL defects• > 1 limb• Rare loose adhesive bands• Usually sporadic• ΔΔ:
Teratogens (thalidomide, warfarin, phenytoin, cocaine, misoprostol, CVS,…)Developmental symbrachydactylySyndromes: Adams-Oliver , EEC, clefts withbands…
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Alignment anomalies• Club foot• Rockerbottom foot• Club hand• Clenched hand• Camptodactyly• Clinodactyly• Phocomelia• ….
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Club foot: equinovarus talipes• Hind foot equinus & varus
Forefoot adduction +/- cavus• 1/1000 live births (N Am, Europe)
(Asia: 0.4 – Hawaï: 7)• M/F 2:1• Bilat +/- 50 %
( Glotzbecker J Pediatr Orthop 2010, Dobbs Update 2009, Offerdael US Obst Gyn 2007)
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Club foot: diagnosis• Tibia, fibula, foot in frontal view• CONSTANT• Ankle angulation• Abnormal foot print• +/- calf thinning
Normal
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Club foot: multifactorial etiology• Heredity (familial 16 - 25 %)• Neuromuscular (CNS, arthrogryposis)• Mechanical (crowding)• Teratogens (DM, fever,
early amniocentesis)
• Often unknown
(Rochon Obst Gyn Clin N Am 2004, Canto Prenat Diagn 2008, Lauzon US Obst Gyn 2010)
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Club foot: management• Prognosis: associated anomalies• Detailed fetal US• Karyotype:
YES if associated / complex? If isolated(0 – 3.6 % aneuploïdies: T18, sex chrom)
• If isolated: no correlation with postnatal severity
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Club foot: differential• Normal (transient, early 1stT, late 3rd T)• Crowding (up to 10 % false +)• Metarsus adductus• More complex leg anomaly• Rockerbottom foot
• look at hindfoot, plantar sole, leg, dynamics
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Rockerbottom foot• Prominent heel• Rounded bottom of foot• +/- dorsiflexed 1st toe• Best seen in lateral view• Frequently associated:
T 13, T 18neural tube defectsdysplasia, Potter
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Clubhand= permanent wrist deviation
AkinesiaAbnormal radius > ulna(ΔΔ: direction, forearm)
12 wga
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Radial clubhand• Rarely isolated and sporadic• Usually associated with
Aneuploidy: T 18, T 21, 13 del, ring chrom 4VACTERLRadial hypoplasia sequence (thumb , metacarpal, trapezium, scaphoid, humerus)Hematologic disorders: Fanconi, TAR, AaseSyndromes : Holt-Oram, Cornelia de LangeTeratogens: DM, valproate…
( Kennelly Prenat Diagn 2007)
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Radial club hand: management• Detailed fetal US
Uni / bilateral*Isolated / associated*
• Thumb!Fanconi: TAR: +Aase: triphalangeal
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Radial club hand: management• Cardiac US
(TAR, Aase, Holt-Oram, Cornelia de Lange)• Genetic counsel• Fetal blood sampling• Chromosomal breakage study
(Fanconi, Roberts)
• Specialized center
Fanconi
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Clenched hand• Index (and 5th digit) overlaps a
clenched fist formed by the other digits• Index IPP flexed & ulnarly deviated• Thumb adducted• « constant »
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Clenched hand• Strongly suggestive of T 18 (40 %)• When T 18 suspected: look at hands & feet, heart
radial ray sequence, clenched hand, club foot, rockerbottom foot
• T 18: great phenotypic variability1st T low serum markers3rd T: IUGR, polyhydramnios, hand aN
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Clenched hand: differential• T 18, T 13, T 9• Akinesia / hypokinesia• Normal (transient!)• Adducted thumbs (X-linked aqueductal stenosis)
Akinesia
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Camptodactyly• = flexion contracture of the PIP• frequently asymmetrical• may be isolated (late progression)• ! when severe, multiple digits → Karyotypic aN (T18, 13, 15)→ Contracture S
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Clinodactyly= fixed abnormal radial deviation of the DIPSmall 2nd phalanges- Up to 60 % of T21- Familial and usually isolated (AD)- 18 % of normal population
Not significant if isolated→ search for associated aN
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Fetal akinesia deformation sequence• = arthrogryposis,Pena Shokeir, amyoplasia…• 3/10000 live births
• Secondary to motion (7 – 8 wga)• Not a specific disease but an end-result
neurologic, muscular, connective tissue, skeletal, crowding…
• Causes: infection, drugs, toxics, FAS, heredity…
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FADS: diagnosis• Absence of fetal movement• Severe flexion / extension deformities• Usually generalized, symmetric• More severe distally• Lower > upper limbs• +/- polyhydramnios, lung hypoplasia
• ΔΔ: T 18
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Number anomalies• Polydactyly• Oligodactyly• Syndactyly• Ectrodactyly• Polysyndactyly• ….
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Polydactyly• The most common hand anomaly • 1/683 pregnancies
(Zimmer Am J Obstet Gynecol 2000)
Pre-axial(radial / tibial)
Central
Post-axial(ulnar / fibular)
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Polydactyly• Incomplete:
soft tissueoften isolatedoften overlookedautoamputation
• Complete (bone): more often associated
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Post-axial polydactyly• More frequent (afro-american )• Usually isolated (AD, favorable)
• Can be associated with:T13Meckel-GruberBardet-BiedlSmith-Lemli-OptizSRPS…
other anomalies
(Zimmer Amm J Obst Gynecol 2000, Karmus-Benailly Am J Hum Gen 2005)
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Meckel-Gruber S
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Pre-axial polydactyly• Less frequent• Possibly syndromic:
SRPSCarpenter ST21VACTERLDiabetes mellitus
• ! « thick » thumb, great toe
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Syndactyly• = abN connection between adjacent
digits (moving together)• Simple (soft tissue) / complex
(bone)• Complete / incomplete• Isolated /complicated• Often 2nd – 3rd digits• Toes: very difficult to Δ
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Syndactyly2-3 / 10000 live birthsFamilial occurrence (AD,isolated, incomplete penetrance, variable expressivity)
! Complex : acrocephalosyndactylies (Apert)Poland
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Ectrodactyly (lobster-claw deformity)• = long deficiency of the central digit(s) & meta• V / U shaped cleft• +/- syndactyly, aplasia, hypoplasia• Isolated• Associated :
EEC SRoberts S
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Circumstances of discovery• Targeted scan:
family history, teratogens (DM, drugs)
• Other fetal anomalies:IUGR, lg bone shorteningCNS anomalies, craniostenosis…
• Fortuitous 24 wga, long bone shortening,ambiguous genitalia, feet!→ Smith Lemli Opitz
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Management: multidisciplinary• Thorough fetal examination (! Thumb)• Cardiac US• Repeated focused US / 3D US / MRI (CNS)• Genetic counseling (familial inquiry, karyotype,..)• Specific examinations (FBS, chromosome breakage
studies)• Orthopedic, plastic surgeons, psychologist,…
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Please, look at the hands & feet!
Thank You!Thank You!