Prune belly anomaly on prenatal ultrasound as a presenting feature of ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC).
Copyright policy )Prune belly anomaly on prenatal ultrasound as a presenting feature of ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC).
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.
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- Radboud University Nijmegen Netherlands
- Ghent University Hospital Belgium
Male, Foot Deformities, Congenital, Cleft Lip, DCN 2: Functional Neurogenomics, DNA Mutational Analysis, Ultrasonography, Prenatal, UMCN 5.1: Genetic defects of metabolism, IGMD 3: Genomic disorders and inherited multi-system disorders, Ectodermal Dysplasia, Pregnancy, UMCN 3.3: Neurosensory disorders, Humans, Prune Belly Syndrome, Genetic Carrier Screening, Tumor Suppressor Proteins, Cleft Palate, Pregnancy Trimester, Second, Trans-Activators, Female, Hand Deformities, Congenital, Abortion, Eugenic, Transcription Factors
Male, Foot Deformities, Congenital, Cleft Lip, DCN 2: Functional Neurogenomics, DNA Mutational Analysis, Ultrasonography, Prenatal, UMCN 5.1: Genetic defects of metabolism, IGMD 3: Genomic disorders and inherited multi-system disorders, Ectodermal Dysplasia, Pregnancy, UMCN 3.3: Neurosensory disorders, Humans, Prune Belly Syndrome, Genetic Carrier Screening, Tumor Suppressor Proteins, Cleft Palate, Pregnancy Trimester, Second, Trans-Activators, Female, Hand Deformities, Congenital, Abortion, Eugenic, Transcription Factors
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