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Prune belly anomaly on prenatal ultrasound as a presenting feature of ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC).
Genet Couns. 2008; 19(4):433-7.GC

Abstract

We report on a fetus with prune belly anomaly presenting at 16 weeks gestation. Clinical evaluation after birth revealed other malformations reminiscent of the EEC syndrome. This diagnosis was also suspected in the mother and finally confirmed in both relatives by identification of a heterozygous mutation (p.R204W) in the p63 gene. With this paper we confirm the previously reported occurrence of prune belly anomaly in the EEC syndrome, however here in this family proven by genetic analysis.

Authors+Show Affiliations

Janssens S
Department of Medical Genetics, Ghent University Hospital, Ghent, Belgium. Sandra.janssens@ugent.be
Defoort P
No affiliation info available
Vandenbroecke C
No affiliation info available
Scheffer H
No affiliation info available
Mortier G
No affiliation info available

MeSH

Abortion, EugenicCleft LipCleft PalateDNA Mutational AnalysisEctodermal DysplasiaFemaleFoot Deformities, CongenitalGenetic Carrier ScreeningHand Deformities, CongenitalHumansMalePregnancyPregnancy Trimester, SecondPrune Belly SyndromeTrans-ActivatorsTranscription FactorsTumor Suppressor ProteinsUltrasonography, Prenatal

Pub Type(s)

Journal Article

Language

eng

PubMed ID

19239089

Citation

Janssens, S, et al. "Prune Belly Anomaly On Prenatal Ultrasound as a Presenting Feature of Ectrodactyly-ectodermal Dysplasia-clefting Syndrome (EEC)." Genetic Counseling (Geneva, Switzerland), vol. 19, no. 4, 2008, pp. 433-7.
Janssens S, Defoort P, Vandenbroecke C, et al. Prune belly anomaly on prenatal ultrasound as a presenting feature of ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC). Genet Couns. 2008;19(4):433-7.
Janssens, S., Defoort, P., Vandenbroecke, C., Scheffer, H., & Mortier, G. (2008). Prune belly anomaly on prenatal ultrasound as a presenting feature of ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC). Genetic Counseling (Geneva, Switzerland), 19(4), 433-7.
Janssens S, et al. Prune Belly Anomaly On Prenatal Ultrasound as a Presenting Feature of Ectrodactyly-ectodermal Dysplasia-clefting Syndrome (EEC). Genet Couns. 2008;19(4):433-7. PubMed PMID: 19239089.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Prune belly anomaly on prenatal ultrasound as a presenting feature of ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC). AU - Janssens,S, AU - Defoort,P, AU - Vandenbroecke,C, AU - Scheffer,H, AU - Mortier,G, PY - 2009/2/26/entrez PY - 2009/2/26/pubmed PY - 2009/3/31/medline SP - 433 EP - 7 JF - Genetic counseling (Geneva, Switzerland) JO - Genet Couns VL - 19 IS - 4 N2 - We report on a fetus with prune belly anomaly presenting at 16 weeks gestation. Clinical evaluation after birth revealed other malformations reminiscent of the EEC syndrome. This diagnosis was also suspected in the mother and finally confirmed in both relatives by identification of a heterozygous mutation (p.R204W) in the p63 gene. With this paper we confirm the previously reported occurrence of prune belly anomaly in the EEC syndrome, however here in this family proven by genetic analysis. SN - 1015-8146 UR - https://www.unboundmedicine.com/medline/citation/19239089/Prune_belly_anomaly_on_prenatal_ultrasound_as_a_presenting_feature_of_ectrodactyly_ectodermal_dysplasia_clefting_syndrome__EEC__ L2 - http://www.diseaseinfosearch.org/result/2437 DB - PRIME DP - Unbound Medicine ER -