Prenatal Sonographic Features of Rubinstein-Taybi Syndrome-A Small Case Series of a Rare Syndrome.
Rubinstein–Taybi syndrome
prenatal diagnosis
prenatal ultrasound
Journal
Prenatal diagnosis
ISSN: 1097-0223
Titre abrégé: Prenat Diagn
Pays: England
ID NLM: 8106540
Informations de publication
Date de publication:
22 Sep 2024
22 Sep 2024
Historique:
revised:
27
08
2024
received:
22
06
2024
accepted:
28
08
2024
medline:
23
9
2024
pubmed:
23
9
2024
entrez:
22
9
2024
Statut:
aheadofprint
Résumé
Rubinstein-Taybi syndrome (RSTS) is a rare syndrome characterized by intellectual disability, distinctive facial features and distal limb abnormalities. RSTS is indicated by clinical features and confirmed via genetic testing. In this prenatal case series, we report four cases of RSTS with various sonographic features. Some features, such as corpus callosum dysgenesis, are nonspecific, but they may be the first sign apparent, as they appear early in pregnancy. Others, like beaked nose, shawl scrotum, premature coccygeal ossification, and overly mature scrotal sac with excessive rugae, are distinctive, but they may only be apparent in advanced gestation.
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2024 The Author(s). Prenatal Diagnosis published by John Wiley & Sons Ltd.
Références
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