Skip navigation
Skip navigation

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]

CollectionsANU Research Publications
Date published: 2017
Type: Journal article
URI: http://hdl.handle.net/1885/218333
Source: Prenatal Diagnosis
DOI: 10.1002/pd.5037

Download

There are no files associated with this item.


Items in Open Research are protected by copyright, with all rights reserved, unless otherwise indicated.

Updated:  19 May 2020/ Responsible Officer:  University Librarian/ Page Contact:  Library Systems & Web Coordinator