Prenatal sonographic features of cranioectodermal dysplasia
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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]
Collections | ANU Research Publications |
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Date published: | 2017 |
Type: | Journal article |
URI: | http://hdl.handle.net/1885/218333 |
Source: | Prenatal Diagnosis |
DOI: | 10.1002/pd.5037 |
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