Inflammatory Arthritis as a Possible Feature of Coffin-Siris Syndrome.
Abnormalities, Multiple
/ diagnosis
Anti-Inflammatory Agents, Non-Steroidal
/ therapeutic use
Arthritis
/ diagnosis
Child
Codon, Nonsense
DNA-Binding Proteins
/ genetics
Diagnosis, Differential
Etanercept
/ therapeutic use
Face
/ abnormalities
Facies
Foot Deformities, Congenital
/ diagnosis
Hand Deformities, Congenital
/ diagnosis
Humans
Hypotrichosis
/ diagnosis
Intellectual Disability
/ diagnosis
Male
Methotrexate
/ therapeutic use
Micrognathism
/ diagnosis
Neck
/ abnormalities
Transcription Factors
/ genetics
Journal
Pediatrics
ISSN: 1098-4275
Titre abrégé: Pediatrics
Pays: United States
ID NLM: 0376422
Informations de publication
Date de publication:
07 2019
07 2019
Historique:
accepted:
14
03
2019
pubmed:
28
6
2019
medline:
18
12
2019
entrez:
28
6
2019
Statut:
ppublish
Résumé
Coffin-Siris syndrome (CSS) and Nicolaides-Baraitser syndrome (NBS) are 2 overlapping syndromes caused by mutations in genes of the barrier-to-autointegration factor chromatin-remodeling complex, presenting with multiple malformations and intellectual disability. Musculoskeletal changes such as noninflammatory prominence of interphalangeal joints in hands, feet, and, to a lesser extent, knee joints are common in NBS (up to 85%) and also reported in CSS. We present the case of a 7-year-old boy with polyarthritis of several years' duration (without uveitis), developmental delay, microcephaly, and dysmorphic features reminiscent of NBS. Sanger sequencing of the
Identifiants
pubmed: 31243159
pii: peds.2018-1741
doi: 10.1542/peds.2018-1741
pii:
doi:
Substances chimiques
ARID1B protein, human
0
Anti-Inflammatory Agents, Non-Steroidal
0
Codon, Nonsense
0
DNA-Binding Proteins
0
Transcription Factors
0
Etanercept
OP401G7OJC
Methotrexate
YL5FZ2Y5U1
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Wellcome Trust
ID : 209568/Z/17/Z
Pays : United Kingdom
Informations de copyright
Copyright © 2019 by the American Academy of Pediatrics.
Déclaration de conflit d'intérêts
POTENTIAL CONFLICT OF INTEREST: Dr Brogan has received a grant from Novartis, consulting fees from Roche, speaker fees from UCB, committee fees and an institutional grant from Swedish Orphan Biovitrum for gene hunting in autoinflammation, an institutional grant from Novimmune for a clinical trial, and other institutional fees from ChemoCentryx; the other authors have indicated they have no potential conflicts of interest to disclose.