ultrasound diagnosis of fatal anomalies

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LARSEN SYNDROMEMeholic AJ, Freimanis AK, Stucka J, LoPiccolo ML. Sonographicin utero diagnosis of Klippel–Trénaunay–Weber syndrome. J Ultrasound Med 1991; 10: 111–4.Meizner I, Rosenak D, Nadjari M, Maor E. Sonographicdiagnosis of Klippel–Trénaunay–Weber syndromepresenting as a sacrococcygeal mass at 14 to 15weeks’ gestation. J Ultrasound Med 1994; 13: 901–4.Shalev E, Romano S, Nseir T, Zuckerman H. Klippel–Trénaunay syndrome: ultrasonic prenatal diagnosis.JCU J Clin Ultrasound 1988; 16: 268–70.Yankowitz J, Slagel DD, Williamson R. Prenatal diagnosisof Klippel–Trénaunay–Weber syndrome by ultrasound.Prenat Diagn 1994; 14: 745–9.Zoppi MA, Ibba RM, Floris M, Putzolu M, Crisponi G,Monni G. Prenatal sonographic diagnosis of Klippel–Trénaunay–Weber syndrome with cardiac failure. JClin Ultrasound 2001; 29: 422–6.Larsen SyndromeDefinition: Multiple congenital joint dislocations,facial dysmorphism, anomalies of thehand, finger and feet, and anomalies of the spinalcolumn.Incidence: Over a hundred cases have been described.Origin/genetics: A collagen defect has been postulated.There are autosomal-dominant (genelocus: 3 p21.1 –p14.1) and autosomal-recessiveforms of inheritance. Girls are more frequentlyaffected than boys.Ultrasound findings: Dislocation of the hip, kneeand elbow joints is frequent. Head and face: flat,square shaped face; deep-set nasal bridge; frontalbossing, hypertelorism, cleft palate (50%).Vertebral column and extremities: scoliosis,spatula-like thumb, stubby fingers, short nails,short upper limbs, pedes equinovarus or valgus,short, stubby distal phalanges, short metacarpals.Thorax: occasionally cardiac defects, tracheomalacia.In a case with a positive family history,the diagnosis was made as early as at16 weeks. The major finding here was hyperextensionof the knee joint. A case has been reportedin which the detection of anomalies on ultrasoundscanning and diagnosis of the fetus led toconfirmation of the diagnosis in the father.Differential diagnosis: Otopalatodigital syndrome,Ehlers–Danlos syndrome, Marfan syndrome,arthrogryposis, diastrophic dysplasia,Pena–Shokeir syndrome, trisomy 18.Prognosis: This is variable. Severe physicalhandicap may be present due to joint dislocations.Compression of the spinal cord is alsopossible. Mental development is normal.ReferencesBecker R, Wegner RD, Kunze J, Runkel S, Vogel M, EntezamiM. Clinical variability of Larsen syndrome: diagnosisin a father after sonographic detection of aseverely affected fetus. Clin Genet 2000; 57: 148–50.Dören M, Rehder H, Holzgreve W. Prenatal diagnosisand obstetric management of Larsen’s syndrome in apatient with an unrecognized family history of thedisease. Gynecol Obstet Invest 1998; 46: 274–8.Lewit N, Batino S, Groisman GM, Stark H, Bronshtein M.Early prenatal diagnosis of Larsen’s syndrome bytransvaginal sonography. J Ultrasound Med 1995; 14:627–9.Rochelson B, Petrikovsky B, Shmoys S. Prenatal diagnosisand obstetric management of Larsen syndrome.Obstet Gynecol 1993; 81: 845–7.Tongsong T, Wanapirak C, Pongsatha S, Sudasana J. Prenatalsonographic diagnosis of Larsen syndrome. JUltrasound Med 2000; 19: 419–21.Fig. 11.15 Larsen syndrome. Flattened fetal profileat 16 + 3 weeks.4253
SELECTED SYNDROMES AND ASSOCIATIONSFig. 11.16 Larsen syndrome. Lower fetal limb at16+3weeksinLarsensyndrome. There is malpositioningof the knee joint.Fig. 11.17 Larsen syndrome. Lower limb, showingnonphysiological overextension—genu recurvatum.12345Fig. 11.18 Larsen syndrome. Same fetus after terminationof the pregnancy, showing severe genua recurvata.254
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Ultrasound Diagnosis ofFetal Anomal
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PrefaceSince 1979, ultrasound scree
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CONTENTSAchondroplasia ............
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Introduction
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FIRST SCREENINGFor reasons of safet
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FIRST SCREENINGFig. 1.6 First scree
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FIRST SCREENINGFig. 1.12 First scre
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SECOND SCREENINGview alone can easi
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SECOND SCREENINGFig. 1.18 Second sc
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THIRD SCREENINGTable 1.1(Continue)S
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2 The Central Nervous Systemand the
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THE CENTRAL NERVOUS SYSTEM AND THE
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FACE AND NECKFig. 3.2 Cleft lip and
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FACE AND NECKFig. 3.7 Cleft lip and
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FACE AND NECKFig. 3.9 Hygroma colli
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FACE AND NECKtions, literature, pho
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FACE AND NECKFig. 3.17 Fetal goiter
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THORAXFig. 4.1 Congenital cystic ad
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THORAXEsophageal Atresia12345Defini
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THORAXFig. 4.7 Primary fetal hydrot
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THORAXReferencesBecker R, Arabin B,
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THORAXFig. 4.15 Left-sided diaphrag
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5 The Heart12345General Considerati
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THE HEART12345tricle, and pulmonary
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THE HEARTFig. 5.4 Complete atrioven
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THE HEARTFig. 5.9 Atrioventricular
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THE HEARTFig. 5.10 Atypical four-ch
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THE HEARTFig. 5.11 Ebstein anomaly,
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THE HEARTFig. 5.14 Ectopia cordis.
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THE HEARTFig. 5.16 Tetralogy of Fal
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THE HEART12345Associated syndromes:
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THE HEARTFig. 5.25 Hypoplastic left
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THE HEARToccur concomitantly. In ad
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THE HEARTFig. 5.28 Transposition of
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THE HEARTFig. 5.30 Ventricular sept
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6 AbdomenAnal Atresia12345Definitio
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ABDOMENimportant to differentiate b
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ABDOMENNyberg DA, Resta RG, Luthy D
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ABDOMENFig. 6.4 Gastroschisis. Loop
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ABDOMEN12345tween the two condition
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ABDOMEN12345Meconium PeritonitisFig
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ABDOMENOmphaloceleDefinition: Ompha
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ABDOMENthe small-bowel loops into t
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ABDOMEN12345smaller omphaloceles, v
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UROGENITAL TRACT12345Normal male ge
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UROGENITAL TRACTFig. 7.2 Hydrocele.
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UROGENITAL TRACTFig. 7.8 Micropenis
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UROGENITAL TRACTMalini S, Valdes C,
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UROGENITAL TRACTUltrasound findings
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UROGENITAL TRACTFig. 7.16 Multicyst
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UROGENITAL TRACTFig. 7.18 Normal ki
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UROGENITAL TRACTMorse RP, Rawnsley
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UROGENITAL TRACTFig. 7.25 Ovarian c
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UROGENITAL TRACT12345Differential d
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UROGENITAL TRACTUrethral Valve Sequ
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UROGENITAL TRACTFig. 7.34 Urethral
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SKELETAL ANOMALIESPrognosis: Intrau
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SKELETAL ANOMALIESTeratogens: None
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SKELETAL ANOMALIESFig. 8.4 Arthrogr
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SKELETAL ANOMALIESFig. 8.10 Arthrog
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SKELETAL ANOMALIESFig. 8.11 Focal f
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SKELETAL ANOMALIESUltrasound findin
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SKELETAL ANOMALIES12345Type II: is
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SKELETAL ANOMALIESFig. 8.19 Osteoge
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SKELETAL ANOMALIESFig. 8.22 Polydac
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SKELETAL ANOMALIESClinical manageme
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SKELETAL ANOMALIESShort Rib-Polydac
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SKELETAL ANOMALIESFig. 8.33 Short r
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SKELETAL ANOMALIESFig. 8.37 Thanato
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SKELETAL ANOMALIESFig. 8.43 Thanato
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ChromosomalDisorders and theirSoft
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PALLISTER-KILLIAN SYNDROMEJacobsen
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TRIPLOIDYFig. 9.1 Triploidy at 16 +
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TRIPLOIDYFig. 9.7 Triploidy. Margin
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TRISOMY 8Holzgreve W, Miny P, Holzg
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TRISOMY 13ReferencesHengstschlager
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TRISOMY 13Fig. 9.16 Trisomy 13. Bil
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TRISOMY 13Fig. 9.21 Trisomy 13. Dou
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TRISOMY 18Scope: NationalNumber of
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TRISOMY 18Fig. 9.30 Trisomy 18. Fet
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TRISOMY 18Fig. 9.46 Trisomy 18. Sam
Page 212 and 213: TRISOMY 18Fig. 9.52 Trisomy 18. Sam
Page 214 and 215: TRISOMY 21Fig. 9.56 Trisomy 21. Nuc
Page 216 and 217: TRISOMY 21Fig. 9.61Trisomy 21. AV c
Page 218 and 219: TRISOMY 21Fig. 9.67 Trisomy 21. Cro
Page 220 and 221: TURNER SYNDROMETurner SyndromeDefin
Page 222 and 223: TURNER SYNDROMEFig. 9.74 Turner syn
Page 224 and 225: WOLF-HIRSCHHORN SYNDROMEScope: Nati
Page 226 and 227: WOLF-HIRSCHHORN SYNDROMEFig. 9.82 W
Page 228 and 229: 10 Soft Markers of ChromosomalAberr
Page 230 and 231: ECHOGENIC BOWELEchogenic BowelDefin
Page 232 and 233: ECHOGENIC KIDNEYSEchogenic KidneysD
Page 234 and 235: MILD VENTRICULOMEGALYAssociated syn
Page 236 and 237: SHORT FEMURNicolaides KH, Snijders
Page 238 and 239: CHOROID PLEXUS CYSTSClinical manage
Page 240 and 241: SINGLE UMBILICAL ARTERYHoward RJ, T
Page 242 and 243: WHITE SPOTFig. 10.15 White spot. Th
Page 244 and 245: Selected Syndromesand Associations
Page 246 and 247: APERT SYNDROMEKaryotyping (differen
Page 248 and 249: BECKWITH-WIEDEMANN SYNDROMEBeckwith
Page 250 and 251: CHARGE ASSOCIATIONFig. 11.7 Body st
Page 252 and 253: Cornelia de Lange Syndrome (Brachma
Page 254 and 255: FREEMAN-SHELDON SYNDROMEOrigin/gene
Page 256 and 257: FRYNS SYNDROMEFig. 11.9 Fryns syndr
Page 258 and 259: HYDROLETHALUSDillon E, Renwick M, W
Page 260 and 261: KLIPPEL-TRÉNAUNAY-WEBER SYNDROMEBa
Page 264 and 265: MECKEL-GRUBER SYNDROMEMeckel-Gruber
Page 266 and 267: MECKEL-GRUBER SYNDROMEFig. 11.23 Me
Page 268 and 269: MOHR SYNDROMEPrognosis: This is gen
Page 270 and 271: MULTIPLE PTERYGIUM SYNDROMEFig. 11.
Page 272 and 273: MURCS ASSOCIATIONalso be associated
Page 274 and 275: NOONAN SYNDROMENeu-Laxova SyndromeD
Page 276 and 277: PENA-SHOKEIR SYNDROMEPena-Shokeir S
Page 278 and 279: PENA-SHOKEIR SYNDROMEFig. 11.39 Pen
Page 280 and 281: PIERRE ROBIN SEQUENCEFig. 11.42 Pie
Page 282 and 283: SMITH-LEMLI-OPITZ SYNDROMEShprintze
Page 284 and 285: SMITH-LEMLI-OPITZ SYNDROMEFig. 11.4
Page 286 and 287: THROMBOCYTOPENIA-ABSENT RADIUS (TAR
Page 288 and 289: VACTERL ASSOCIATIONsis. Cardiac rha
Page 290 and 291: VACTERL ASSOCIATIONFig. 11.54 VACTE
Page 292 and 293: CYSTIC FIBROSISSelf-Help Organizati
Page 294 and 295: Other Causes ofFetal Disease andAno
Page 296 and 297: RHESUS INCOMPATIBILITYReferencesAlt
Page 298 and 299: 13 InfectionsCongenital SyphilisDef
Page 300 and 301: PARVOVIRUS B19Parvovirus B19Definit
Page 302 and 303: CYTOMEGALOVIRUS INFECTIONPratlong F
Page 304 and 305: CYTOMEGALOVIRUS INFECTIONFig. 13.4
Page 306 and 307: 14 Placenta, Cord, and AmnioticFlui
Page 308 and 309: CYSTS OF THE UMBILICAL CORDCysts of
Page 310 and 311: OLIGOHYDRAMNIOSOligohydramniosDefin
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have fatal consequences, leading to
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DETERMINATION OF ZYGOSITYFig. 15.4
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CONJOINED TWINSFig. 15.6 Conjoined
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TWIN REVERSED ARTERIAL PERFUSIONmay
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TWIN-TO-TWIN TRANSFUSION SYNDROMESc
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TWIN-TO-TWIN TRANSFUSION SYNDROMEna
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16 Growth DisturbanceMacrosomiaDefi
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GROWTH DISTURBANCEsurvivors have a
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18 DrugsAnticonvulsive DrugsSubstan
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COCAINE AND HEROINSelf-Help Organiz
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19 AppendixFurther ReadingBenacerra
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III. SCREENINGTable 19.1(Continue)F
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III. SCREENINGTable 19.1(Continue)S
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APPENDIXCardiacfindingsThoracoabdom
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APPENDIXExtremities,skeletal findin
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APPENDIXmmmm351203095 %11010095 %25
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APPENDIXmm60mm14555045403595 %5 %12
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APPENDIXmm90mm7080706095 %5 %605095
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APPENDIXmm25mm252095 %2095 %155 %15
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APPENDIXcm40PI5,0354,5304,03,5253,0
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APPENDIXPI3,53,02.52,01,51,00,50,02
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INDEXesophageal atresia 72extrasyst
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INDEXGgallbladder 8, 139gastrointes
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INDEXtrisomy 13 188trisomy 18 194va
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INDEXSmith-Lemli-Optitz syndrome 27
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INDEXwhite spot 232-3Wildervancksyn
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ultrasound diagnosis of fatal anomalies

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