RT Book, Section A1 Hogge, W. Allen A1 Cohlan, Barbara A1 Wilkins, Isabelle A1 Hill, Lyndon SR Print(0) ID 1129209372 T1 SONOGRAPHIC FEATURES OF LESS-COMMON FETAL SYNDROMES/ASSOCIATIONS T2 Sanders' Structural Fetal Abnormalities, 3e YR 2016 FD 2016 PB McGraw-Hill Education PP New York, NY SN 9781259641374 LK obgyn.mhmedical.com/content.aspx?aid=1129209372 RD 2024/03/29 AB Aarskog syndrome (X-linked recessive)HypertelorismShort noseClinodactylyBrachydactylyAase syndrome (autosomal dominant)Radial hypoplasiaCleft palateVentricular septal defectUrogenital anomaliesAcrocallosal syndrome (autosomal recessive)Agenesis of corpus callosumIntracranial cystsHypertelorismMacrocephalyPolydactyly—postaxialAcrofacial dysostosis, Miller syndrome (autosomal recessive)Malformed earsMicrognathiaCleft lip/palateAbsent digits, usually the fifth digitsRadial hypoplasiaAcromesomelic dysplasia (autosomal recessive)Mesomelic (forearm/lower leg) shortnessBowed radiusAdams-Oliver syndrome (autosomal dominant)Absent digitsEncephaloceleMicrocephalyCardiac defectsClubfootIntrauterine growth restrictionAicardi syndrome (X-linked dominant)Agenesis of corpus callosumArachnoid cystDandy-Walker malformationVentriculomegalyMicrocephalyMicrophthalmiaAmyloplasia congenita (sporadic)GastroschisisMicrognathiaClubfootJoint contracturesDecreased fetal movementAtelosteogenesis (autosomal dominant)Small chestEleven pairs of ribsHypertelorismCleft lip and palateMicrognathiaAbsent humeriAbsent fibulaBowed tibiaClubfootRhizomelic (proximal) shorteningIntrauterine growth restrictionPolyhydramniosBaller-Gerold syndrome (autosomal recessive)Malformed kidneyMild ventriculomegalyHypotelorismMicrognathiaAbsent digitsAbnormal or absent thumbRadial hypoplasiaIntrauterine growth restrictionRenal abnormalitiesBasal cell nevus (Gorlin) syndrome (autosomal dominant)MacrocephalyCalcifications in falx cerebriVentriculomegaly—mildBeals syndrome (autosomal dominant)Joint contracturesCardiac defectsBoomerang dysplasia (autosomal dominant)BowingSevere micromeliaHypertelorismClubfeetPolyhydramniosBranchio-oto-renal (Melnick-Fraser) syndrome (autosomal dominant)Malformed earsRenal abnormalitiesCHARGE association (autosomal dominant)Esophageal atresiaCardiac abnormalityAnophthalmiaHoloprosencephalyCleft palateMicrognathiaGenital hypoplasiaChondrodysplasia punctata (X-linked dominant, X-linked recessive, autosomal recessive)Small chestJoint contracturesRhizomelic shorteningHydropsStippled epiphysesChromosome: 18p-HoloprosencephalyHypotelorismClubfootCardiac abnormalitiesChromosome: 18q-Microphthalmia/anophthalmiaMicrocephalyChromosome: 47,XXYIncreased nuchal translucencyChromosome: 4p- (Wolf-Hirschhorn)HypertelorismCardiac abnormalityCleft lip/palateMicrognathiaMalformed ears (tags)Intrauterine growth restrictionMicrocephalyCleidocranial dysplasia (autosomal dominant)Partial or total aplasia of the claviclesBrachycephalyHypertelorismCongenital muscular dystrophy (autosomal recessive)Clenched handsMuscle wastingCongenital nephrotic syndrome (autosomal recessive)PolyhydramniosHydropsPlacentomegalyCornelia de Lange syndrome (autosomal dominant)Cardiac abnormalityDandy-Walker malformationMicrocephalyShort noseMidface hypoplasiaAbnormal thumbAbsent digitsAbsent limbsClinodactylyRadial hypoplasiaShort limbsHydropsIntrauterine growth restrictionCri-du-chat (5p deletion) syndromeMicrocephalyMicrognathiaCardiac malformationFacial abnormalities, such as cleft lip and palateHypoplastic cerebellumIncreased nuchal translucencyIntrauterine growth restrictionDiabetic embryopathyDuodenal atresiaMalformed kidneyRenal agenesisCardiac abnormalityHoloprosencephalySpinal dysraphismVertebral defectsCleft lip/palateMacrosomiaPolyhydramniosDyssegmental dysplasia (autosomal recessive)BowingSevere shortening of all limbsVertebral abnormalitiesCleft palateEctrodactyly-ectodermal-dysplasia-clefting syndrome (autosomal dominant)HydronephrosisCleft lip with or without cleft palateAbsent digitsAbsent limbsClinodactylyRenal anomaliesHoloprosencephalyEctrodactyly–tibial aplasia syndrome (autosomal dominant)Abnormal thumbsAbsent digitsTibial aplasiaBifurcation of femoraUlna hypoplasiaEllis–Van Creveld syndrome (autosomal recessive)Renal agenesisCardiac abnormalitiesSmall chestClubfootPolydactyly—postaxialDandy Walker malformationShort limbsIntrauterine growth restrictionFanconi syndrome (autosomal recessive)Cardiac abnormalityThumb hypoplasia/aplasiaMicrocephalyRadial hypoplasiaRenal abnormalitiesAbsent cavum septum pellucidumCardiac defectsFetal infectionsEchogenic bowelEchogenic brain fociHepatic calcificationsMicrocephalyLimb abnormalities (varicella)Mild ventriculomegalyCataractsMicrophthalmiaHydropsIntrauterine growth restrictionThick placentaFetal methotrexate embryopathyMesomelic shortnessMicrognathiaIntrauterine growth restrictionClubfeetCleft palateNeural tube defectsFetal warfarin syndromeNasal hypoplasiaRhizomelic shorteningIntrauterine growth restrictionStippled epiphysesFibrochondrogenesis (autosomal dominant and autosomal recessive)Small chestRhizomelic shorteningCleft palateHydropsIntrauterine growth restrictionOmphaloceleFraser syndrome (autosomal recessive)Microphthalmia or anophthalmiaSyndactylyGenital abnormalitiesLaryngeal atresiaMalformations of the nose and earRenal agenesisFreeman-Sheldon syndrome (autosomal dominant)MicrognathiaUlnar deviation of handsClenched handsClubfootJoint contracturesMicrocephalyFrontonasal dysplasia sequence (autosomal recessive in some forms)Frontal bone defectMedian cleft lipHypertelorismGrebe syndrome (autosomal recessive)AcromesomeliaAbsent limbsPolydactyly—preaxialGreig cephalopolysyndactyly syndrome (autosomal dominant)MacrocephalyHypertelorismAbnormal thumbHands: polydactyly—postaxialFeet: polydactyly—preaxialAbsence of the corpus callosumVentriculomegalyHarlequin icthyosis (autosomal recessive)Open mouth with large tongueClenched or fixed handsLimbs in fixed positionsHolt-Oram syndrome (autosomal dominant)Cardiac abnormalityAbnormal thumbAbsent digitsAbsent limbsClinodactylyRadial hypoplasiaHydrolethalus (autosomal recessive)Agenesis of the corpus callosumMicrophthalmia or anophthalmiaPolydactyly—postaxialVentriculomegalyPolyhydramniosMicrognathiaCleft palateHeart defectClubfootHypophosphatasia (autosomal recessive)Small chestEasily visualized brain structuresBowed limbsModerate-to-severe bone shorteningDiffuse hypomineralizationPolyhydramniosIvemark syndrome (usually sporadic)Situs inversusComplex heart defectPolyspleniaRenal abnormalitiesJackson-Weiss syndrome (autosomal dominant)Exophthalmos/proptosis/prominent eyesFacial asymmetryJacobsen syndrome (sporadic unless a parent has a balanced translocation)TrigonocephalyMicrocephalyHypertelorismMicrognathiaCardiac defectsJarcho-Levin syndrome, spondylocostal dysostosis (autosomal recessive)Malaligned and malformed vertebraFan-shaped ribsSevere shortening of the spineJoubert syndrome (autosomal recessive)Cerebellar hypoplasiaDandy-Walker malformationRenal abnormalitiesMicrognathiaPolydactylyKlippel-Feil sequence (sporadic)Vertebral defectsCongenital heart defectsCleft palateKniest syndrome (autosomal dominant)Short limbsKyphoscoliosisPlatyspondylyHypoplastic pelvic bonesCleft palateLarsen syndrome (autosomal dominant and recessive)ClubfootAbnormal vertebral segmentation with kyphoscoliosisHypertelorismMicrognathiaJoint dislocationCleft palate (autosomal dominant form)Lenz syndrome (X-linked recessive)MicrocephalyRenal aplasia/hypoplasiaMicrophthalmiaMarden-Walker syndrome (autosomal recessive)MicrocephalyMicrognathiaCleft palateClubfeetJoint contracturesRenal cystsIntrauterine growth restrictionMaternal phenylketonuriaCardiac abnormalityMicrocephalyIntrauterine growth restrictionMcKusick-Kaufman syndrome (autosomal recessive)HydronephrosisCardiac abnormalityPolydactyly—postaxialHydrometrocolpos (midline lower abdominal mass containing echogenic debris that is due to vaginal atresia/stenosis)Other genitourinary anomaliesAnorectal atresiaMegacystis megaureter (sporadic)HydronephrosisLarge thick-walled bladderDilated uretersMostly maleMegacystis microcolon intestinal hypoperistalsis syndrome (possibly autosomal recessive)Large bladder without wall ...