Prenatal sonographic features of cranioectodermal dysplasia

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Muttusamy, T.
Ma, A.
Sinnerbrink, I.
Quinton, A.E.
Peek, Michael
Joung, S

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John Wiley & Sons Inc.

Abstract

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 dysplasia (CED), diagnosedpostnatally which showed early features prenatally.

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Prenatal Diagnosis

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