Sensenbrenner Syndrome Presenting with Severe Anorexia, Failure to Thrive, Chronic Kidney Disease and Angel-Shaped Middle Phalanges in Two Siblings.
Angel-shaped middle phalanges
Anorexia
Chronic kidney disease
Failure to thrive
Sensenbrenner syndrome
Journal
Molecular syndromology
ISSN: 1661-8769
Titre abrégé: Mol Syndromol
Pays: Switzerland
ID NLM: 101525192
Informations de publication
Date de publication:
Jul 2021
Jul 2021
Historique:
received:
17
08
2020
accepted:
02
03
2021
entrez:
23
8
2021
pubmed:
24
8
2021
medline:
24
8
2021
Statut:
ppublish
Résumé
Sensenbrenner syndrome is a very rare autosomal recessive disorder caused by variants in genes involved in the functional development of primary cilia. Typical clinical manifestations include craniofacial and skeletal abnormalities, hence the alternative name cranioectodermal dysplasia. Chronic kidney disease due to progressive tubulointerstitial nephritis (nephronophthisis) has been described in these patients. The authors present 2siblings with severe anorexia, failure to thrive, chronic kidney disease, and angel-shaped middle phalanges. Two previously described variants p.(Leu641*) and p.(Asp841Val) were identified in the
Identifiants
pubmed: 34421506
doi: 10.1159/000515645
pii: msy-0012-0263
pmc: PMC8339521
doi:
Types de publication
Case Reports
Langues
eng
Pagination
263-267Informations de copyright
Copyright © 2021 by S. Karger AG, Basel.
Déclaration de conflit d'intérêts
The authors have no conflicts of interest to declare.
Références
Br J Ophthalmol. 1996 May;80(5):490-1
pubmed: 8695580
Birth Defects Res. 2018 Mar 1;110(4):376-381
pubmed: 29134781
Am J Med Genet A. 2020 Oct;182(10):2417-2425
pubmed: 32804427
Am J Med Genet A. 2021 Apr;185(4):1195-1203
pubmed: 33421337
Am J Hum Genet. 2011 Nov 11;89(5):634-43
pubmed: 22019273
Chest. 2008 May;133(5):1181-8
pubmed: 18263686
Am J Med Genet A. 2015 Sep;167A(9):2188-96
pubmed: 25914204
Clin Genet. 2013 Jan;83(1):92-5
pubmed: 22486404
Am J Hum Genet. 2010 Sep 10;87(3):418-23
pubmed: 20817137
Birth Defects Orig Artic Ser. 1975;11(2):372-9
pubmed: 1227553
Jpn J Radiol. 2020 Mar;38(3):193-206
pubmed: 31965514
Am J Med Genet. 2002 Jan 1;107(1):78-80
pubmed: 11807876
Am J Med Genet. 1993 Oct 1;47(5):765-71
pubmed: 8267010
J Fr Ophtalmol. 2000 Feb;23(2):158-60
pubmed: 10705117
Am J Med Genet A. 2006 Nov 1;140(21):2336-40
pubmed: 17022080
Am J Hum Genet. 2010 Jun 11;86(6):949-56
pubmed: 20493458
Pediatr Nephrol. 2014 Aug;29(8):1451-6
pubmed: 24504730
Pediatr Nephrol. 2013 Jun;28(6):863-74
pubmed: 22829176
Pediatr Nephrol. 2006 Apr;21(4):574-6
pubmed: 16491415
J Med Genet. 2004 Jun;41(6):e78
pubmed: 15173244
Am J Med Genet A. 2017 May;173(5):1364-1368
pubmed: 28332779
Development. 2007 Aug;134(16):2903-12
pubmed: 17660199
Eur Arch Otorhinolaryngol. 2016 May;273(5):1167-71
pubmed: 26162451
J Am Soc Nephrol. 2006 Sep;17(9):2424-33
pubmed: 16885411
Pediatr Pulmonol. 2018 Aug;53(8):1122-1129
pubmed: 29938933