Ectrodactyly-ectodermal dysplasia-clefting syndrome. Prenatal prospective ultrasound diagnosis.
EEC
dysplasia
ectodermal
ectrodactyly
prenatal diagnosis
Journal
Journal of clinical ultrasound : JCU
ISSN: 1097-0096
Titre abrégé: J Clin Ultrasound
Pays: United States
ID NLM: 0401663
Informations de publication
Date de publication:
Oct 2023
Oct 2023
Historique:
revised:
31
07
2023
received:
11
07
2023
accepted:
14
08
2023
pubmed:
4
9
2023
medline:
4
9
2023
entrez:
4
9
2023
Statut:
ppublish
Résumé
Prenatal diagnosis of the Ectrodactyly-Ectodermal dysplasia-clefting (EEC) syndrome has been based upon the detection of ectrodactyly, in association with facial clefting and/or positive family history. Our aim is to describe other ultrasonographic features indicating the presuntive diagnosis, regardless of genetic diagnosis, especially in cases of negative family history. A case report and a review of the literature was assessed. Our case report showed a singleton foetus "lobster claw" deformities of hands and feet. Paternal history revealed bilateral agenesia of two fingers. Through literature, 15 case reports of prenatal diagnosis of EEC syndrome were found, 14 of which were eligible for our systematic review. The 33% of cases (5/15) had a familiar history of EEC, thus, we found one case of consanguinity of parents. Anomalies EEC-related were recognized in the 40% of cases (6/15). An association with genitourinary anomalies was found in 30% (5/15) of them. A strong suspicion of final diagnosis of EEC may be done in the presence of ectrodactyly, facial clefting and urinary malformation especially in cases of negative family history. More attention should be given to a genetic counseling, especially to understand a possible relation to other genetic syndromes.
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
1348-1355Informations de copyright
© 2023 Wiley Periodicals LLC.
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