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Prenatal sonographic features of cranioectodermal dysplasia
journal contribution
posted on 2018-07-18, 00:00 authored by T Muttusamy, A Ma, I Sinnerbrink, Ann QuintonAnn Quinton, MJ Peek, S JoungCranioectodermal 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
37Issue
6Start Page
628End Page
630Number of Pages
3eISSN
1097-0223ISSN
0197-3851Publisher
John Wiley & Sons, UKPublisher DOI
Peer Reviewed
- Yes
Open Access
- No
External Author Affiliations
Nepean HospitalNew South Wales; The Australian National UniversityEra Eligible
- Yes