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Prenatal sonographic features of cranioectodermal dysplasia

Muttusamy, T.; Ma, A.; Sinnerbrink, I.; Quinton, A.E.; Peek, Michael; Joung, S

Description

Cranioectodermal dysplasia, also known as Sensenbrennersyndrome, is a rare disorder characterised by craniofacial,skeletal and ectodermal abnormalities.1,2It is also part of avery rare group of conditions called ciliopathies, whereabnormalities of the kidney (renal concentrating problemsand nephronophthisis), liver (hepatic fibrosis), skeleton, andeyes (retinal dystrophy) can develop with time as well asother problems such as neurodevelopmental delay.3Wereport a case of cranioectodermal...[Show more]

dc.contributor.authorMuttusamy, T.
dc.contributor.authorMa, A.
dc.contributor.authorSinnerbrink, I.
dc.contributor.authorQuinton, A.E.
dc.contributor.authorPeek, Michael
dc.contributor.authorJoung, S
dc.date.accessioned2020-12-20T20:57:38Z
dc.date.available2020-12-20T20:57:38Z
dc.identifier.issn0197-3851
dc.identifier.urihttp://hdl.handle.net/1885/218333
dc.description.abstractCranioectodermal dysplasia, also known as Sensenbrennersyndrome, is a rare disorder characterised by craniofacial,skeletal and ectodermal abnormalities.1,2It is also part of avery rare group of conditions called ciliopathies, whereabnormalities of the kidney (renal concentrating problemsand nephronophthisis), liver (hepatic fibrosis), skeleton, andeyes (retinal dystrophy) can develop with time as well asother problems such as neurodevelopmental delay.3Wereport a case of cranioectodermal dysplasia (CED), diagnosedpostnatally which showed early features prenatally.
dc.format.mimetypeapplication/pdf
dc.language.isoen_AU
dc.publisherJohn Wiley & Sons Inc.
dc.sourcePrenatal Diagnosis
dc.titlePrenatal sonographic features of cranioectodermal dysplasia
dc.typeJournal article
local.description.notesImported from ARIES
local.identifier.citationvolume37
dc.date.issued2017
local.identifier.absfor111401 - Foetal Development and Medicine
local.identifier.ariespublicationa383154xPUB6497
local.type.statusPublished Version
local.contributor.affiliationMuttusamy, T., Nepean Hospital
local.contributor.affiliationMa, A., Nepean Hospital
local.contributor.affiliationSinnerbrink, I., Nepean Hospital
local.contributor.affiliationQuinton, A.E., University of Sydney
local.contributor.affiliationPeek, Michael, College of Health and Medicine, ANU
local.contributor.affiliationJoung, S, Nepean Hospital
local.bibliographicCitation.issue6
local.identifier.doi10.1002/pd.5037
dc.date.updated2020-11-23T10:58:22Z
local.identifier.scopusID2-s2.0-85019617541
local.identifier.thomsonID000403299500011
CollectionsANU Research Publications

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