Fetal anomalies of the hands and feet - PDF document

Fetal anomalies of the hands and feet Françoise Rypens, MD, FRCPC Orlando 2013 Department of Medical ImagingSte-Justine Mother-Child University Hospital Center Introduction Limbmalformations: 0.6 % fetalUS 0.49 –3.5/10000 live births Upper� lower2:1 �Uni bilateral4:1 Difficultto recognize, oftenoverlooked isolated/ associatedfunctional& psychosocial impact May bethe clue for a specific Acrocephalosyndactyly, Pfeiffer type Objectives To emphasizethe necessityof a systematicexamination To reviewthe normal appearance To discussmajor hands & feetanomalies: significance prenatalwork-up differentialdiagnosis US examination: when? Best timing: late1trim–early2 •3rdtrim: closedhands lessrelative amnioticfluid hiddenparts US examination: how? •Systematically proximal –distal 4 limbs presence, morphology position, motion proportions 2D abdo/transvag, 3D complementary, (MRI) Normal appearance 8-9 wga: limbbuds 10-11 wga: appendicularlong bones, phalanges •12-13 wga: metacarpals, metatarsals •20-24 wga: calcaneum, talus Otherossification centersafterbirth (Mahony, J UltrasoundMed 1984) 24 wga Prematureappearanceof ossification chondrodysplasiapunctataTarsallocation: N (artifact)aneuploidiesIUGR Normal 19 wga, chondrodysplasiapunctata Hands & feetanomalies Absence aNmorphology aNnumber aNsize AlignmentaN aNmotion (Rypens, Radiographics2006) Absence: e.g.: amnioticconstriction band 1/56 fetuses–1/1200 live birthsUnknownetiology: IntrinsicgermlineaNVasculardisruption eventEarlyamnionruptureDisruptions, deformations& malformations:cranialdefects, body walldefects… (GoldfarbJ Bones& Joint Surg2009) Amnioticconstriction band •ASYMMETRICAL defects •� 1 limb •Rare looseadhesivebands Usuallysporadic • Teratogens(thalidomide, warfarin, phenytoin, cocaine, misoprostol, CVS,…) Developmentalsymbrachydactyly Adams-Oliver , EEC, cleftswith Alignmentanomalies •Club foot Rockerbottomfoot •Club hand Clenchedhand •Camptodactyly •Clinodactyly •Phocomelia •…. Club foot: equinovarustalipes Hindfoot equinus& varusForefootadduction +/-cavus1/1000 live births(N Am, Europe)(Asia: 0.4 –Hawaï: 7)Bilat+/-50 % ( GlotzbeckerJ PediatrOrthop2010, DobbsUpdate 2009, OfferdaelUS ObstGyn2007) Club foot: diagnosis •Tibia, fibula, foot in frontal view •CONSTANT Ankleangulation Abnormalfoot print +/-calf thinning Normal Club foot: multifactorialetiology Heredity(familial 16 -25 %) Neuromuscular(CNS, arthrogryposis) Mechanical(crowding) Teratogens(DM, fever, earlyamniocentesis) Oftenunknown (RochonObstGynClin N Am 2004, Canto Prenat Diagn2008, Lauzon US ObstGyn2010) Prognosis: associatedanomaliesDetailedfetalUSYES if associated/ complex(0 –3.6 % aneuploïdies: T18, sexchrom)If isolated: no correlationwithpostnatal severity Club foot: differential Normal (transient, early1T, late3 Crowding(up to 10 % false +) Metarsusadductus More complexleganomaly Rockerbottomfoot look athindfoot, plantarsole, leg, dynamics RockerbottomfootProminentheelRoundedbottomof foot+/-dorsiflexed1st toeBest seenin lateralview Frequentlyassociated: Clubhand = permanent wristdeviation Akinesia Abnormal�radius ulna (: direction, forearm) 12 wga Radial clubhand Rarelyisolatedand sporadicUsuallyassociatedwith T 18, T 21, 13 del, ring chrom4Radial hypoplasiasequence(thumb, metacarpal, trapezium, ematologicdisorders: ( KennellyPrenat Diagn2007) Radial club hand: management DetailedfetalUS Uni / bilateral* Isolated/ associated* •Thumb! Fanconi: TAR: + Aase: triphalangeal Radial club hand: management CardiacUS (TAR, Aase, Holt-Oram, Cornelia de Lange) Geneticcounsel Fetalbloodsampling Chromosomalbreakagestudy (Fanconi, Roberts) Specializedcenter Fanconi Clenchedhand digit) overlapsaclenchedfistformedby the otherdigitsIndex IPP flexed& ulnarlydeviatedThumbadducted«constant» Clenchedhand Stronglysuggestive of T 18 (40 %)WhenT 18 suspected: look athands & feet, heartradial ray sequence, clenchedhand, club foot, rockerbottomfootT 18: greatphenotypicvariabilityT lowserummarkers Clenchedhand: differential •T 18, T 13, T 9 Akinesia/ hypokinesia •Normal (transient!) Adductedthumbs(X-linkedaqueductalstenosis) Akinesia Camptodactyly frequentlyasymmetricalmaybeisolated(lateprogression)! whensevere, multiple digits KaryotypicaN(T18, 13, 15) Clinodactyly = fixedabnormalradial deviationof the DIP Small 2nd phalanges -Up to 60 % of T21 -Familial and usuallyisolated(AD) -18 % of normal population Not significantif isolated searchfor associatedaN Fetalakinesiadeformationsequence = arthrogryposis,PenaShokeir, amyoplasia… •3/10000 live births Secondaryto motion (7 –8 wga) Not a specificdiseasebut an end-result neurologic, muscular, connective tissue, skeletal, crowding… •Causes: infection, drugs, toxics, FAS, heredity… FADS: diagnosis Absence of fetalmovement Severeflexion / extension deformities Usuallygeneralized, symmetric More severedistally Lower� upperlimbs +/-polyhydramnios, lunghypoplasia •: T 18 Numberanomalies •Polydactyly •Oligodactyly •Syndactyly •Ectrodactyly •Polysyndactyly •…. Polydactyly •The most common hand anomaly •1/683 pregnancies (ZimmerAm J ObstetGynecol2000) Pre-axial (radial / tibial) Central Post-axial (ulnar/ fibular) Polydactyly •Incomplete: soft tissue oftenisolated oftenoverlooked autoamputation •Complete (bone) : more oftenassociated More frequent(afro-american)Usuallyisolated(AD, favorable)Can beassociatedwith: otheranomalies(ZimmerAmmJ ObstGynecol2000, Karmus-BenaillyAm J Hum Gen2005) Meckel-Gruber S Pre-axial polydactyly Lessfrequent Possiblysyndromic: SRPS Carpenter S T21 VACTERL Diabetesmellitus ! «thick»thumb, greattoe Syndactyly = abNconnectionbetweenadjacent digits (movingtogether) •Simple (soft tissue) / complex(bone) •Complete / incomplete Isolated/complicated Often2nd –3rd digits Toes: verydifficultto Syndactyly 2-3 / 10000 live births Familial occurrence (AD,isolated, incompletepenetrance, variable expressivity) ! Complex: acrocephalosyndactylies(Apert) Poland Ectrodactyly(lobster-clawdeformity) = long deficiencyof the central digit(s) & meta V / U shapedcleft +/-syndactyly, aplasia, hypoplasia •Isolated Associated: EEC S Roberts S Circumstancesof discovery Targetedscan: familyhistory, teratogens(DM, drugs) Otherfetalanomalies: IUGR, lg boneshortening CNS anomalies, craniostenosis… •Fortuitous 24 wga, long boneshortening, ambiguousgenitalia, feet! Smith LemliOpitz Management: multidisciplinary Thoroughfetalexamination(! Thumb) CardiacUS RepeatedfocusedUS / 3D US / MRI (CNS) Geneticcounseling(familial inquiry, karyotype,..) Specificexaminations(FBS, chromosome breakage •Orthopedic, plastic surgeons, psychologist,… Please, look atthe hands & feet! ThankYou! Thank You!