Prune belly anomaly on prenatal ultrasound as a presenting feature of ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC).
Genet Couns
; 19(4): 433-7, 2008.
Article
en En
| MEDLINE
| ID: mdl-19239089
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.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Síndrome del Abdomen en Ciruela Pasa
/
Displasia Ectodérmica
/
Deformidades Congénitas del Pie
/
Deformidades Congénitas de la Mano
/
Transactivadores
/
Ultrasonografía Prenatal
/
Labio Leporino
/
Fisura del Paladar
/
Proteínas Supresoras de Tumor
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Female
/
Humans
/
Male
/
Pregnancy
Idioma:
En
Revista:
Genet Couns
Asunto de la revista:
ETICA
/
GENETICA MEDICA
Año:
2008
Tipo del documento:
Article
País de afiliación:
Bélgica