Significance of cardiovascular malformations in cystic hygroma: a new interpretation of the pathogenesis
Fetuses with cystic hygroma or loose skin of the neck were studied chromosomally and phenotypically to clarify the relation between neck abnormality and cardiovascular malformations. Of 12 fetuses, 9 had chromosome abnormalities: 4 with 45,X, 3 with trisomy 21, one each with trisomy 13, dup 6q. One...
Saved in:
Published in | American journal of medical genetics Vol. 34; no. 4; p. 489 |
---|---|
Main Authors | , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
United States
01.12.1989
|
Subjects | |
Online Access | Get more information |
Cover
Loading…
Abstract | Fetuses with cystic hygroma or loose skin of the neck were studied chromosomally and phenotypically to clarify the relation between neck abnormality and cardiovascular malformations. Of 12 fetuses, 9 had chromosome abnormalities: 4 with 45,X, 3 with trisomy 21, one each with trisomy 13, dup 6q. One had normal chromosomes. Two cases, in which chromosome analysis was unsuccessful, were morphologically suspected to be trisomy 13. Nine of the 12 fetuses had either bilateral cystic hygroma of the neck (7 cases) or nuchal bleb (2 cases: trisomy 13 and dup 6q). Two of the 3 remaining cases (trisomy 21) had loose skin of the neck, and one had edematous swelling of the skin of the neck. Except for the last case of trisomy 21, 11 fetuses (91.7%) had severe and/or rare cardiovascular malformations. They were divided into 3 major groups: a) spectrum of hypoplastic left heart syndrome (45,X and dup 6q), b) double outlet right ventricle, agenesis of semilunar valve (trisomy 13), and c) abnormality of atrioventricular orifice or valves (trisomy 21). One fetus with normal chromosomes had persistent left superior vena cava instead of absent right one and calcification of myocardium. Histological observation of edematous skin demonstrated the abnormal distribution of lymph vessels, including their absence. Some cases showed hypoplastic thymus. To integrate the findings of the present study and the descriptions in the literature, a pathogenesis is hypothesized in relation to migration of neural crest cells and extracellular matrix. |
---|---|
AbstractList | Fetuses with cystic hygroma or loose skin of the neck were studied chromosomally and phenotypically to clarify the relation between neck abnormality and cardiovascular malformations. Of 12 fetuses, 9 had chromosome abnormalities: 4 with 45,X, 3 with trisomy 21, one each with trisomy 13, dup 6q. One had normal chromosomes. Two cases, in which chromosome analysis was unsuccessful, were morphologically suspected to be trisomy 13. Nine of the 12 fetuses had either bilateral cystic hygroma of the neck (7 cases) or nuchal bleb (2 cases: trisomy 13 and dup 6q). Two of the 3 remaining cases (trisomy 21) had loose skin of the neck, and one had edematous swelling of the skin of the neck. Except for the last case of trisomy 21, 11 fetuses (91.7%) had severe and/or rare cardiovascular malformations. They were divided into 3 major groups: a) spectrum of hypoplastic left heart syndrome (45,X and dup 6q), b) double outlet right ventricle, agenesis of semilunar valve (trisomy 13), and c) abnormality of atrioventricular orifice or valves (trisomy 21). One fetus with normal chromosomes had persistent left superior vena cava instead of absent right one and calcification of myocardium. Histological observation of edematous skin demonstrated the abnormal distribution of lymph vessels, including their absence. Some cases showed hypoplastic thymus. To integrate the findings of the present study and the descriptions in the literature, a pathogenesis is hypothesized in relation to migration of neural crest cells and extracellular matrix. |
Author | Miyabara, S Yoshida, K Kayama, F Sugihara, H Saito, N Suzumori, K Tasaki, H Ibara, S Maehara, N Shouno, H |
Author_xml | – sequence: 1 givenname: S surname: Miyabara fullname: Miyabara, S organization: Department of Pathology, Saga Medical School, Japan – sequence: 2 givenname: H surname: Sugihara fullname: Sugihara, H – sequence: 3 givenname: N surname: Maehara fullname: Maehara, N – sequence: 4 givenname: H surname: Shouno fullname: Shouno, H – sequence: 5 givenname: H surname: Tasaki fullname: Tasaki, H – sequence: 6 givenname: K surname: Yoshida fullname: Yoshida, K – sequence: 7 givenname: N surname: Saito fullname: Saito, N – sequence: 8 givenname: F surname: Kayama fullname: Kayama, F – sequence: 9 givenname: S surname: Ibara fullname: Ibara, S – sequence: 10 givenname: K surname: Suzumori fullname: Suzumori, K |
BackLink | https://www.ncbi.nlm.nih.gov/pubmed/2533851$$D View this record in MEDLINE/PubMed |
BookMark | eNotj8tOwzAURL0oKm1hzQrJP5By7SRNzA5VvKRKLIB1dX1jJ64aO7JTUP-eAl2NNHN0pJmziQ_eMHYjYCkA5B3u-nYpcgl5AQXUEzYDUdRZJZW6ZPOUdgDiVMgpm8oyz-tSzFj37lrvrCP0ZHiwnDA2LnxhosMeI-9xb0PscXTBJ-48p2MaHfHu2MbQ4z1H7s33aRhNHKIZ_8Bfz9gZPuDYhdZ4k1y6YhcW98lcn3PBPp8eP9Yv2ebt-XX9sMmohLrOSJHVFmRZSSCJSKWxtoFGSS1KpVcAsCoMFI2uFNZolFaU6yo3SFRIknLBbv-9w0H3ptkO0fUYj9vzY_kD6CBbhA |
CitedBy_id | crossref_primary_10_1002__SICI_1097_0223_199703_17_3_249__AID_PD45_3_0_CO_2_U crossref_primary_10_1515_jpme_1991_19_6_449 crossref_primary_10_1111_j_1741_4520_2001_tb00829_x crossref_primary_10_1002__SICI_1096_8628_19970120_68_2_135__AID_AJMG3_3_0_CO_2_O crossref_primary_10_1002_ajmg_1320560318 crossref_primary_10_1002__SICI_1097_0223_199606_16_6_537__AID_PD911_3_0_CO_2_4 crossref_primary_10_1111_j_1479_828X_1992_tb01895_x crossref_primary_10_1111_j_1741_4520_1993_tb00512_x crossref_primary_10_1007_s13312_021_2093_x crossref_primary_10_1017_S1047951100005722 crossref_primary_10_1016_0046_8177_92_90031_W crossref_primary_10_1016_S1028_4559_10_60029_0 crossref_primary_10_3109_15513819409024251 crossref_primary_10_1002__SICI_1096_8628_19970331_69_3_225__AID_AJMG1_3_0_CO_2_K crossref_primary_10_1177_1933719107314062 crossref_primary_10_1016_0753_3322_93_90056_Q crossref_primary_10_1016_j_jacc_2008_02_035 crossref_primary_10_1007_BF01744495 crossref_primary_10_1136_jmg_35_4_328 crossref_primary_10_1007_BF00794186 crossref_primary_10_1002_pd_1803 crossref_primary_10_1002__SICI_1097_0223_199606_16_6_503__AID_PD902_3_0_CO_2_F crossref_primary_10_1002_ajmg_1320640404 crossref_primary_10_1111_j_1741_4520_2000_tb00916_x crossref_primary_10_7863_jum_2006_25_6_711 crossref_primary_10_1093_humrep_deg499 crossref_primary_10_1002_pd_765 crossref_primary_10_1053_j_semperi_2006_01_001 crossref_primary_10_1055_a_1745_7002 crossref_primary_10_1016_S1054_8807_02_00127_8 crossref_primary_10_1007_BF03347082 crossref_primary_10_1016_j_mehy_2005_02_030 crossref_primary_10_1002_pd_1970110209 crossref_primary_10_1086_302152 crossref_primary_10_1111_j_1741_4520_1990_tb00495_x crossref_primary_10_1002_pd_1970101004 crossref_primary_10_1002__SICI_1096_8628_19970317_69_2_207__AID_AJMG18_3_0_CO_2_P crossref_primary_10_1515_jpm_2015_0419 crossref_primary_10_1016_0168_9525_93_90230_F crossref_primary_10_1097_01_AOG_0000238340_64966_81 crossref_primary_10_1016_S0095_5108_18_30560_8 crossref_primary_10_1002_uog_1831 |
ContentType | Journal Article |
DBID | CGR CUY CVF ECM EIF NPM |
DOI | 10.1002/ajmg.1320340408 |
DatabaseName | Medline MEDLINE MEDLINE (Ovid) MEDLINE MEDLINE PubMed |
DatabaseTitle | MEDLINE Medline Complete MEDLINE with Full Text PubMed MEDLINE (Ovid) |
DatabaseTitleList | MEDLINE |
Database_xml | – sequence: 1 dbid: NPM name: PubMed url: https://proxy.k.utb.cz/login?url=http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed sourceTypes: Index Database – sequence: 2 dbid: EIF name: MEDLINE url: https://proxy.k.utb.cz/login?url=https://www.webofscience.com/wos/medline/basic-search sourceTypes: Index Database |
DeliveryMethod | no_fulltext_linktorsrc |
Discipline | Medicine Biology |
ExternalDocumentID | 2533851 |
Genre | Journal Article |
GroupedDBID | .55 .GA .GJ .Y3 10A 1L6 1OB 1OC 1ZS 23M 31~ 3O- 51W 51X 52N 52O 52P 52T 52W 52X 53G 5GY 5RE 7PT 8-1 8-4 8-5 930 A03 AAEVG AAHHS AANLZ AAQQT AAXRX AAZKR ABCUV ACAHQ ACBWZ ACCFJ ACCZN ACFBH ACPOU ACXBN ACXQS ADEOM ADIZJ ADMGS ADOZA ADZOD AEEZP AEIGN AEIMD AEQDE AEUQT AEUYR AFBPY AFFNX AFFPM AFGKR AFPWT AFZJQ AHBTC AI. AITYG AIURR AIWBW AJBDE ALMA_UNASSIGNED_HOLDINGS ALUQN AMBMR AMYDB ASPBG ATUGU AVWKF AZFZN BDRZF BRXPI BY8 CGR CS3 CUY CVF D-F DCZOG DPXWK DRFUL DRSTM DVXWH EBS ECM EIF EJD F00 F01 F04 F5P FEDTE G-S GODZA HBH HGLYW HHY HVGLF IH2 JPC LATKE LAW LEEKS LH4 LITHE LOXES LP6 LP7 LUTES LYRES M66 MRFUL MRSTM MSFUL MSSTM MXFUL MXSTM NNB NPM O66 OHT P4D PALCI Q11 QB0 QRW RIWAO ROL RWI RWV RYL SAMSI SUPJJ UB1 UDS V8K VH1 WIB WIH WIK WQJ WRC WTM WXSBR X7M XPP XV2 ZGI ZXP ZZTAW |
ID | FETCH-LOGICAL-c5088-c9cfbf025720c2aac5effd0d92b159b600064e04db79a8ae9b9c3b73eacc42c22 |
ISSN | 0148-7299 |
IngestDate | Sat Sep 28 07:22:21 EDT 2024 |
IsPeerReviewed | false |
IsScholarly | false |
Issue | 4 |
Language | English |
LinkModel | OpenURL |
MergedId | FETCHMERGED-LOGICAL-c5088-c9cfbf025720c2aac5effd0d92b159b600064e04db79a8ae9b9c3b73eacc42c22 |
PMID | 2533851 |
ParticipantIDs | pubmed_primary_2533851 |
PublicationCentury | 1900 |
PublicationDate | December 1989 |
PublicationDateYYYYMMDD | 1989-12-01 |
PublicationDate_xml | – month: 12 year: 1989 text: December 1989 |
PublicationDecade | 1980 |
PublicationPlace | United States |
PublicationPlace_xml | – name: United States |
PublicationTitle | American journal of medical genetics |
PublicationTitleAlternate | Am J Med Genet |
PublicationYear | 1989 |
SSID | ssj0011482 |
Score | 1.2751179 |
Snippet | Fetuses with cystic hygroma or loose skin of the neck were studied chromosomally and phenotypically to clarify the relation between neck abnormality and... |
SourceID | pubmed |
SourceType | Index Database |
StartPage | 489 |
SubjectTerms | Abnormalities, Multiple - pathology Chromosome Aberrations - pathology Chromosome Disorders Chromosomes, Human, Pair 13 Down Syndrome Female Fetal Diseases - genetics Fetal Diseases - pathology Heart Defects, Congenital - genetics Heart Defects, Congenital - pathology Humans Lymphangioma - genetics Lymphangioma - pathology Male Phenotype Pregnancy Trisomy |
Title | Significance of cardiovascular malformations in cystic hygroma: a new interpretation of the pathogenesis |
URI | https://www.ncbi.nlm.nih.gov/pubmed/2533851 |
Volume | 34 |
hasFullText | |
inHoldings | 1 |
isFullTextHit | |
isPrint | |
link | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1BT9swFLbKEBOXaTDQBgz5wA0FUsdpYm4IMSGk9lKQuCHbsdOgJUFbOZQ_wN_mOXYbp7AJuESRbVmN35fXL8_fe0booM9ZFvZTHQxiTgIqtApEqEVgdE2KCJnG0uQ7D0eDi2t6eRPf9HpPnmrpYSqO5OOreSUfsSq0gV1Nluw7LLuYFBrgHuwLV7AwXN9k43GRV0bq08j-jT68Ky4t-e9FbmIje5UzU5X5cDLL_9Qlt3nOQKubmhGe8tDJBsxhxXVufGHx1-ewi00er-pE6fZ7zPCpJ6AfFjOjGeCdIOv4IS8mrnGxUzXkat7W7g5NwBfV7bCMz-VXrdKjDVgCgWe-x3Xhy8IPJzTuk9rjhF64dVsmlt-V-ZFJ-Y4ouJ7UHwkrdl82VibAX1Nbw_a_nUtVtl3PClpJUuMoRybo4zajTKlUq4S1jzKvEBWS46WftI7W3ERLXykNW7n6ir64zwx8ajGzgXqq2kRr9uDR2Sb6PHSSim9o4oMI1xp3QYQ7IMJFhS2IsAPRCeYYIIS7EDLzAISwD6EtdP3r_OrsInDHbwTSsPZAMqmFBk6ckFASzmWstM7CjBEBHFgMGjqrQpqJhPGUKyaYjEQSwV-5pEQSso0-VXWlviOsNM2I1kCGWUQjQVnCoz5NkiyTsU4Z-YG27Wrd3tsaK7duGXf-1bGL1lu47aFVDa-0-gn8cCr2G-s9A7oRaWw |
link.rule.ids | 786 |
linkProvider | National Library of Medicine |
openUrl | ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=Significance+of+cardiovascular+malformations+in+cystic+hygroma%3A+a+new+interpretation+of+the+pathogenesis&rft.jtitle=American+journal+of+medical+genetics&rft.au=Miyabara%2C+S&rft.au=Sugihara%2C+H&rft.au=Maehara%2C+N&rft.au=Shouno%2C+H&rft.date=1989-12-01&rft.issn=0148-7299&rft.volume=34&rft.issue=4&rft.spage=489&rft_id=info:doi/10.1002%2Fajmg.1320340408&rft_id=info%3Apmid%2F2533851&rft_id=info%3Apmid%2F2533851&rft.externalDocID=2533851 |
thumbnail_l | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=0148-7299&client=summon |
thumbnail_m | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=0148-7299&client=summon |
thumbnail_s | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=0148-7299&client=summon |