Prenatal sonographic features of cranioectodermal dysplasia
Date
Authors
Muttusamy, T.
Ma, A.
Sinnerbrink, I.
Quinton, A.E.
Peek, Michael
Joung, S
Journal Title
Journal ISSN
Volume Title
Publisher
John Wiley & Sons Inc.
Abstract
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 dysplasia (CED), diagnosedpostnatally which showed early features prenatally.
Description
Keywords
Citation
Collections
Source
Prenatal Diagnosis