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Prenatal sonographic features of cranioectodermal dysplasia
journal contributionposted on 2018-07-18, 00:00 authored 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.
Number of Pages3
PublisherJohn Wiley & Sons, UK
External Author AffiliationsNepean HospitalNew South Wales; The Australian National University