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Prenatal sonographic features of cranioectodermal dysplasia

journal contribution
posted on 18.07.2018, 00:00 by T Muttusamy, A Ma, I Sinnerbrink, Ann QuintonAnn Quinton, MJ Peek, S Joung
Cranioectodermal dysplasia, also known as Sensenbrenner syndrome, is a rare disorder characterised by craniofacial, skeletal and ectodermal abnormalities.1,2 It is also part of a very rare group of conditions called ciliopathies, where abnormalities of the kidney (renal concentrating problems and nephronophthisis), liver (hepatic fibrosis), skeleton, and eyes (retinal dystrophy) can develop with time as well as other problems such as neurodevelopmental delay.3 We report a case of cranioectodermal dysplasia (CED), diagnosed postnatally which showed early features prenatally.

History

Volume

37

Issue

6

Start Page

628

End Page

630

Number of Pages

3

eISSN

1097-0223

ISSN

0197-3851

Publisher

John Wiley & Sons, UK

Peer Reviewed

Yes

Open Access

No

External Author Affiliations

Nepean HospitalNew South Wales; The Australian National University

Era Eligible

Yes

Journal

Prenatal Diagnosis