Rubinstein-Taybi Syndrome: Presentation in the First Month of Life.

Humans Infant Infant, Newborn Rubinstein-Taybi Syndrome / complications
RSTS RTS dysmorphic feeding neonatal thumbs

Journal

The Journal of pediatrics
ISSN: 1097-6833
Titre abrégé: J Pediatr
Pays: United States
ID NLM: 0375410

Informations de publication

Date de publication:
10 2022
Historique:
received: 10 03 2022
revised: 08 06 2022
accepted: 30 06 2022
pubmed: 9 7 2022
medline: 13 10 2022
entrez: 8 7 2022
Statut: ppublish

Résumé

This web-based survey of 311 respondents from 25 countries provides additional information about the early presentation of Rubinstein-Taybi syndrome. Most (86%) infants present during the neonatal period, with 69% of these within 24 hours of life. Prolonged hospital stay is common (61%).

Identifiants

DOI: 10.1016/j.jpeds.2022.06.038 PMID: 35803299
pubmed: 35803299
pii: S0022-3476(22)00618-7
doi: 10.1016/j.jpeds.2022.06.038
pii:
doi:

Types de publication

Case Reports

Langues

eng

Sous-ensembles de citation

IM

Pagination

106-110

Informations de copyright

Copyright © 2022 Elsevier Inc. All rights reserved.

Auteurs

Candice Levetan (C)

Department of Paediatrics, University of Cape Town, Cape Town, South Africa.

Julien Van Gils (J)

Medical Genetics Department, Bordeaux University, Bordeaux, France.

Alicia Saba (A)

French RSTS Support Group, Paris, France.

Cristina Rodríguez-Fonseca (C)

Asociación Española para el Síndrome de Rubinstein-Taybi, Madrid, Spain.

Karen Fieggen (K)

Division of Human Genetics, Department of Medicine, University of Cape Town, Cape Town, South Africa.

Lloyd Tooke (L)

Division of Neonatology, Department of Paediatrics, University of Cape Town, Cape Town, South Africa. Electronic address: Lloyd.tooke@uct.ac.za.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Rubinstein-Taybi Syndrome: Presentation in the...
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Rubinstein-Taybi Syndrome: Presentation in the...
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Nouveau-né › Rubinstein-Taybi Syndrome: Presentation in the...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies chromosomiques › Syndrome de Rubinstein-Taybi › Rubinstein-Taybi Syndrome: Presentation in the...