Prenatal sonographic features of cranioectodermal dysplasia
journal contribution
posted on 2018-07-18, 00:00authored byT 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.