Metacarpophalangeal profile pattern analysis in a further patient with a novel ARID1B variant.
Coffin-Siris syndrome (CSS)
appendicular
metacarpophalangeal profile pattern analysis (MCPPPA)
skeletal
Journal
Congenital anomalies
ISSN: 1741-4520
Titre abrégé: Congenit Anom (Kyoto)
Pays: Australia
ID NLM: 9306292
Informations de publication
Date de publication:
Sep 2021
Sep 2021
Historique:
revised:
06
05
2021
received:
29
12
2020
accepted:
20
05
2021
pubmed:
1
6
2021
medline:
15
1
2022
entrez:
31
5
2021
Statut:
ppublish
Résumé
Acral clinical and radiographic characteristics of a further patient with Coffin-Siris syndrome (CSS), which is caused by mutations in the ARID1B gene, encoding a subunit of the BAF-complex, are here described. Metacarpophalangeal profile pattern analysis (MCPPPA) of the present proband and other two known ARID1B mutated individuals has been performed for the first time, demonstrating hands brachydactyly. In this novel study, the utility of an accurate appendicular radiographic examination and MCPPPA in this congenital condition is highlighted. The MCPPPA could be considered in the clinical practice, to better study the hand skeletal morphology in patients with a syndrome characterized by limb defects, including CSS.
Substances chimiques
ARID1B protein, human
0
DNA-Binding Proteins
0
Transcription Factors
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
193-196Informations de copyright
© 2021 Japanese Teratology Society.
Références
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