Prenatal sonographic features of cranioectodermal dysplasia

T. Muttusamy; A. Ma; I. Sinnerbrink; A. E. Quinton; M. J. Peek; S. Joung

doi:10.1002/pd.5037

Prenatal sonographic features of cranioectodermal dysplasia

T. Muttusamy^*, A. Ma, I. Sinnerbrink, A. E. Quinton, M. J. Peek, S. Joung

^*Corresponding author for this work

Research output: Contribution to journal › Letter › peer-review

4 Citations (Scopus)

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 ï¬brosis), 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.

Original language	English
Pages (from-to)	628-630
Number of pages	3
Journal	Prenatal Diagnosis
Volume	37
Issue number	6
DOIs	https://doi.org/10.1002/pd.5037
Publication status	Published - Jun 2017

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@article{4f22001bab62479ba995b13e51ddb112,

title = "Prenatal sonographic features of cranioectodermal dysplasia",

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 {\"i}¬brosis), 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.",

author = "T. Muttusamy and A. Ma and I. Sinnerbrink and Quinton, \{A. E.\} and Peek, \{M. J.\} and S. Joung",

year = "2017",

month = jun,

doi = "10.1002/pd.5037",

language = "English",

volume = "37",

pages = "628--630",

journal = "Prenatal Diagnosis",

issn = "0197-3851",

publisher = "John Wiley \& Sons Ltd.",

number = "6",

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TY - JOUR

T1 - Prenatal sonographic features of cranioectodermal dysplasia

AU - Muttusamy, T.

AU - Ma, A.

AU - Sinnerbrink, I.

AU - Quinton, A. E.

AU - Peek, M. J.

AU - Joung, S.

PY - 2017/6

Y1 - 2017/6

N2 - 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 ï¬brosis), 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.

AB - 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 ï¬brosis), 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.

UR - https://www.scopus.com/pages/publications/85019617541

U2 - 10.1002/pd.5037

DO - 10.1002/pd.5037

M3 - Letter

SN - 0197-3851

VL - 37

SP - 628

EP - 630

JO - Prenatal Diagnosis

JF - Prenatal Diagnosis

IS - 6

ER -

Prenatal sonographic features of cranioectodermal dysplasia

Abstract

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