Short Foot Length: A Diagnostic Pointer for Harlequin Ichthyosis

Among the fetal skin disorders, harlequin ichthyosis is the one that has specific sonographic features in the antenatal period. A few cases of antenatal diagnosis of harlequin ichthyosis with typical facial features of ectropion and eclabium have been described. The manifestation of the phenotype is...

Full description

Saved in:
Bibliographic Details
Published inJournal of ultrasound in medicine Vol. 23; no. 12; pp. 1653 - 1657
Main Authors Suresh, Seshadri, Vijayalakshmi, Raja, Indrani, Suresh, Lata, Murlidharan
Format Journal Article
LanguageEnglish
Published England Am inst Ulrrasound Med 01.12.2004
Subjects
Online AccessGet full text

Cover

Loading…
Abstract Among the fetal skin disorders, harlequin ichthyosis is the one that has specific sonographic features in the antenatal period. A few cases of antenatal diagnosis of harlequin ichthyosis with typical facial features of ectropion and eclabium have been described. The manifestation of the phenotype is usually in the third trimester. Fetal skin biopsy can be done in the late second trimester for diagnosing fetal skin disorders. We aimed to see whether a short foot length could be a pointer for the diagnosis of harlequin ichthyosis in the second trimester before the full phenotypic manifestation, which is usually seen in the third trimester. We report 3 cases of harlequin ichthyosis, 2 of them diagnosed in the third trimester with abnormal facial features and another second-trimester sonographic diagnosis based on short foot length, without eclabium and ectropion. In all 3 cases, the foot length was considerably smaller than the femur length, especially in the third case, in which the foot length was smaller than the femur length before the manifestation of the typical features of harlequin ichthyosis. Fetal foot length may be an important and probably the first marker seen in the second trimester for the diagnosis of harlequin ichthyosis.
AbstractList Among the fetal skin disorders, harlequin ichthyosis is the one that has specific sonographic features in the antenatal period. A few cases of antenatal diagnosis of harlequin ichthyosis with typical facial features of ectropion and eclabium have been described. The manifestation of the phenotype is usually in the third trimester. Fetal skin biopsy can be done in the late second trimester for diagnosing fetal skin disorders. We aimed to see whether a short foot length could be a pointer for the diagnosis of harlequin ichthyosis in the second trimester before the full phenotypic manifestation, which is usually seen in the third trimester. We report 3 cases of harlequin ichthyosis, 2 of them diagnosed in the third trimester with abnormal facial features and another second-trimester sonographic diagnosis based on short foot length, without eclabium and ectropion. In all 3 cases, the foot length was considerably smaller than the femur length, especially in the third case, in which the foot length was smaller than the femur length before the manifestation of the typical features of harlequin ichthyosis. Fetal foot length may be an important and probably the first marker seen in the second trimester for the diagnosis of harlequin ichthyosis.
OBJECTIVEAmong the fetal skin disorders, harlequin ichthyosis is the one that has specific sonographic features in the antenatal period. A few cases of antenatal diagnosis of harlequin ichthyosis with typical facial features of ectropion and eclabium have been described. The manifestation of the phenotype is usually in the third trimester. Fetal skin biopsy can be done in the late second trimester for diagnosing fetal skin disorders. We aimed to see whether a short foot length could be a pointer for the diagnosis of harlequin ichthyosis in the second trimester before the full phenotypic manifestation, which is usually seen in the third trimester.METHODSWe report 3 cases of harlequin ichthyosis, 2 of them diagnosed in the third trimester with abnormal facial features and another second-trimester sonographic diagnosis based on short foot length, without eclabium and ectropion.RESULTSIn all 3 cases, the foot length was considerably smaller than the femur length, especially in the third case, in which the foot length was smaller than the femur length before the manifestation of the typical features of harlequin ichthyosis.CONCLUSIONSFetal foot length may be an important and probably the first marker seen in the second trimester for the diagnosis of harlequin ichthyosis.
Author Suresh, Seshadri
Indrani, Suresh
Lata, Murlidharan
Vijayalakshmi, Raja
Author_xml – sequence: 1
  fullname: Suresh, Seshadri
– sequence: 2
  fullname: Vijayalakshmi, Raja
– sequence: 3
  fullname: Indrani, Suresh
– sequence: 4
  fullname: Lata, Murlidharan
BackLink https://www.ncbi.nlm.nih.gov/pubmed/15557308$$D View this record in MEDLINE/PubMed
BookMark eNpNkEtLw0AUhQep2If-AkGy0lXiPDOJK0u1tlBQUNfDNL1ppiSZOpMQ-u9NaUHv5my-c7h8YzSobQ0I3RIcySRmj7u2iijGPKIsIjQisWAXaESEwGEaEzZAI0xlEnKayiEae7_DmGIi-RUa9pCQDCcj9PxZWNcEc2ubYAX1timegmnwYvS2tr4xWfBhTd2AC3LrgoV2Jfy0pg6WWdEUB-uNv0aXuS493Jxzgr7nr1-zRbh6f1vOpqswowlrQkIlTRK5YVmuJacJhZhvhAAQGx1DxjhJ85xDnAAnjOr-cyIgxZzQNcOUCzZB96fdvbM_LfhGVcZnUJa6Btt6FUucsuNNEDuBmbPeO8jV3plKu4MiWB3FqV6cOopTlClC1VFc37o7z7frCjZ_nbOpHng4AYXZFp1xoHyly7LHieq67t_UL4cEd1E
Cites_doi 10.1046/j.1469-0705.2002.00708.x
10.1016/0002-9378(95)90162-0
10.1007/s00404-002-0333-4
10.7863/jum.2003.22.7.737
ContentType Journal Article
DBID CGR
CUY
CVF
ECM
EIF
NPM
AAYXX
CITATION
7X8
DOI 10.7863/jum.2004.23.12.1653
DatabaseName Medline
MEDLINE
MEDLINE (Ovid)
MEDLINE
MEDLINE
PubMed
CrossRef
MEDLINE - Academic
DatabaseTitle MEDLINE
Medline Complete
MEDLINE with Full Text
PubMed
MEDLINE (Ovid)
CrossRef
MEDLINE - Academic
DatabaseTitleList MEDLINE
MEDLINE - Academic
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 fulltext_linktorsrc
Discipline Medicine
Physics
EISSN 1550-9613
EndPage 1657
ExternalDocumentID 10_7863_jum_2004_23_12_1653
15557308
www23_12_1653
Genre Journal Article
Case Reports
GroupedDBID -
0R
1KJ
1OC
34G
39C
53G
55
5GY
5RE
5VS
68V
AAWTL
AAZKR
ABCUV
ABDQB
ABFLS
ABOCM
ACGFS
ACPOU
ACXQS
ADACO
ADBBV
ADXAS
ADZMN
AENEX
AEUQT
AFBPY
AFFNX
AJYGW
ALMA_UNASSIGNED_HOLDINGS
ALUQN
BFHJK
DCZOG
DRJOP
DU5
EBS
F5P
G8K
GJ
H13
KQ8
LATKE
LOXES
LUTES
LYRES
MEWTI
MRJOP
MSJOP
MXJOP
O9-
OK1
P2P
P2W
RHF
RHI
ROL
RS9
TUL
TWZ
WIH
WIJ
WIK
WOHZO
X7M
ZXP
ZZTAW
---
.55
.GJ
0R~
18M
1OB
33P
6PF
AAHHS
AANLZ
ABJNI
ABLJU
ABQWH
ACCFJ
ACCZN
ACGFO
ACGOF
ADBTR
ADKYN
AEEZP
AEIGN
AEQDE
AEUYR
AFFPM
AHBTC
AITYG
AIURR
AIWBW
AJBDE
AMYDB
C45
CGR
CUY
CVF
ECM
EIF
EJD
HDBZQ
HGLYW
LEEKS
N4W
NPM
OVD
SAMSI
SUPJJ
TEORI
USG
WXSBR
ZGI
ZVN
AAMNL
AAYXX
ABDPE
CITATION
7X8
ID FETCH-LOGICAL-c283t-1272887d3cfa74282e64d55ee5da6ec3419ff4e68e4132a02715e90412b302453
ISSN 0278-4297
IngestDate Wed Dec 04 03:55:30 EST 2024
Fri Dec 06 02:53:21 EST 2024
Sat Sep 28 08:37:05 EDT 2024
Tue Nov 10 19:47:48 EST 2020
IsPeerReviewed true
IsScholarly true
Issue 12
Language English
License http://onlinelibrary.wiley.com/termsAndConditions
http://doi.wiley.com/10.1002/tdm_license_1
LinkModel OpenURL
MergedId FETCHMERGED-LOGICAL-c283t-1272887d3cfa74282e64d55ee5da6ec3419ff4e68e4132a02715e90412b302453
Notes ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
PMID 15557308
PQID 67093333
PQPubID 23479
PageCount 5
ParticipantIDs proquest_miscellaneous_67093333
crossref_primary_10_7863_jum_2004_23_12_1653
pubmed_primary_15557308
highwire_smallpub1_www23_12_1653
ProviderPackageCode RHF
RHI
PublicationCentury 2000
PublicationDate 2004-12-01
PublicationDateYYYYMMDD 2004-12-01
PublicationDate_xml – month: 12
  year: 2004
  text: 2004-12-01
  day: 01
PublicationDecade 2000
PublicationPlace England
PublicationPlace_xml – name: England
PublicationTitle Journal of ultrasound in medicine
PublicationTitleAlternate J Ultrasound Med
PublicationYear 2004
Publisher Am inst Ulrrasound Med
Publisher_xml – name: Am inst Ulrrasound Med
References (10.7863/jum.2004.23.12.1653-BIB0002|jum200423121653-cit-0002) 2003; 22
10.7863/jum.2004.23.12.1653-BIB0001|jum200423121653-cit-0001
(10.7863/jum.2004.23.12.1653-BIB0005|jum200423121653-cit-0005) 1995; 173
(10.7863/jum.2004.23.12.1653-BIB0004|jum200423121653-cit-0004) 2002; 20
(10.7863/jum.2004.23.12.1653-BIB0003|jum200423121653-cit-0003) 2003; 268
(10.7863/jum.2004.23.12.1653-BIB0006|jum200423121653-cit-0006) 1988; 72
References_xml – volume: 20
  start-page: 82
  year: 2002
  ident: 10.7863/jum.2004.23.12.1653-BIB0004|jum200423121653-cit-0004
  publication-title: Ultrasound Obstet Gynecol
  doi: 10.1046/j.1469-0705.2002.00708.x
– volume: 173
  start-page: 16
  year: 1995
  ident: 10.7863/jum.2004.23.12.1653-BIB0005|jum200423121653-cit-0005
  publication-title: Am J Obstet Gynecol
  doi: 10.1016/0002-9378(95)90162-0
– ident: 10.7863/jum.2004.23.12.1653-BIB0001|jum200423121653-cit-0001
– volume: 72
  start-page: 181
  year: 1988
  ident: 10.7863/jum.2004.23.12.1653-BIB0006|jum200423121653-cit-0006
  publication-title: Obstet Gynecol
– volume: 268
  start-page: 48
  year: 2003
  ident: 10.7863/jum.2004.23.12.1653-BIB0003|jum200423121653-cit-0003
  publication-title: Arch Gynecol Obstet
  doi: 10.1007/s00404-002-0333-4
– volume: 22
  start-page: 737
  year: 2003
  ident: 10.7863/jum.2004.23.12.1653-BIB0002|jum200423121653-cit-0002
  publication-title: J Ultrasound Med
  doi: 10.7863/jum.2003.22.7.737
SSID ssj0020174
Score 1.8040792
Snippet Among the fetal skin disorders, harlequin ichthyosis is the one that has specific sonographic features in the antenatal period. A few cases of antenatal...
OBJECTIVEAmong the fetal skin disorders, harlequin ichthyosis is the one that has specific sonographic features in the antenatal period. A few cases of...
SourceID proquest
crossref
pubmed
highwire
SourceType Aggregation Database
Index Database
Publisher
StartPage 1653
SubjectTerms Adult
Fatal Outcome
Female
Femur - embryology
Foot - diagnostic imaging
Foot - embryology
Humans
Ichthyosis, Lamellar - diagnostic imaging
Ichthyosis, Lamellar - embryology
Pregnancy
Pregnancy Trimester, Second
Pregnancy Trimester, Third
Ultrasonography, Prenatal
Title Short Foot Length: A Diagnostic Pointer for Harlequin Ichthyosis
URI http://www.jultrasoundmed.org/cgi/content/abstract/23/12/1653
https://www.ncbi.nlm.nih.gov/pubmed/15557308
https://search.proquest.com/docview/67093333
Volume 23
hasFullText 1
inHoldings 1
isFullTextHit
isPrint
link http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1Zb9NAEF5BEYgXBOUKpx94Cy74WNvhCYRaFQhFkATlbbWXFQfXLj4Uwa9nZjeOU5SKIw9W4muj-Ua7Mzsz3xDyjHuJEi996Y6SULhhqLQ7Upq6fupLT8pRyoVJkD2Jjmfh-zmd97UnprqkEQfy5866kv9BFc4Brlgl-w_Ibl4KJ-A74AtHQBiOf4XxZAHG8zAty2aIDVGahS1dVjZ9DqlYz0rkg6hMMqEJrH9vs2KYyQXgU9ZZfYFt2uZNxWvsuIT7Ib_H3yct-OhmO2aCASNVZd2Vr9mS_-A5_1YvTk2awBe-3Mz77wpV2Q5SQ_uG7sKYWxMWQM8zhQzSxbnNiHArscPOWT44pbDExdsTrC0o7hTJ35ouvcgyBa-XXvgZ75rW4yRCeolla6gDwgM_wC3c_uFtEu2TT-xoNh6z6eF8eplcQX5EbKnw4fMmuAQmjyXn7v6rJaPCQV7sGOK8wdKRSF_skBjDZHqT3Fij5ryx6nGLXNLFPrn2cY3ZPrlqknxlfZu8NvrioL44Vl9eOdzptcVZawvcUTkbbXF6bblDZkeH07fH7rqDhivBbGwAndiHVUQFMuUxOJq-jkJFqdZU8UhL5PJL01BHiQZbxucgEY_qEVKwiQBj8sFdsleUhb5PHPAkgzTiyou1CEeeEHHg8VQKKhJBVZoOyPNOTOzMEqUwcDBRqgykiu1OQ-YHzPMZSnVAnE6UrD7leQ4i9Nhqtdq-5WknYgZzHgayeKHLtmbIORjAZ0DuWcn3I1JKYc1KHvzx2Yfkeq_Aj8heU7X6MdiXjXhitOUXVoF8FQ
link.rule.ids 314,780,784,27924,27925
linkProvider Colorado Alliance of Research Libraries
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=Short+foot+length%3A+a+diagnostic+pointer+for+harlequin+ichthyosis&rft.jtitle=Journal+of+ultrasound+in+medicine&rft.au=Suresh%2C+Seshadri&rft.au=Vijayalakshmi%2C+Raja&rft.au=Indrani%2C+Suresh&rft.au=Lata%2C+Murlidharan&rft.date=2004-12-01&rft.issn=0278-4297&rft.volume=23&rft.issue=12&rft.spage=1653&rft.epage=1657&rft_id=info:doi/10.7863%2Fjum.2004.23.12.1653&rft.externalDBID=NO_FULL_TEXT
thumbnail_l http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=0278-4297&client=summon
thumbnail_m http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=0278-4297&client=summon
thumbnail_s http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=0278-4297&client=summon