Cantú syndrome: A new case and evolution of clinical conditions during first 2-year follow-up.
ABCC9 gene
Cantú syndrome
congenital hypertrichosis
hypertrichotic osteochondrodysplasia
Journal
Clinical case reports
ISSN: 2050-0904
Titre abrégé: Clin Case Rep
Pays: England
ID NLM: 101620385
Informations de publication
Date de publication:
Mar 2023
Mar 2023
Historique:
received:
07
09
2022
revised:
28
12
2022
accepted:
19
01
2023
entrez:
6
3
2023
pubmed:
7
3
2023
medline:
7
3
2023
Statut:
epublish
Résumé
Cantú syndrome, or hypertrichotic osteochondrodysplasia, is a rare autosomal dominant disease characterized by congenital hypertrichosis, characteristic dysmorphisms, skeletal abnormalities and cardiomegaly. We report on a 7-year-old girl with congenital generalized hypertrichosis, coarse facial appearance and cardiac involvement, with a de novo heterozygous mutation (c.3461G > A) in the ABCC9 gene. During the annual cardiac follow-up at the age of nine the echocardiogram showed mild left ventricular dilatation in consideration of which she started ramipril treatment. The progression of the clinical manifestations of Cantú syndrome highlights the relevance of an early diagnosis, including genetic analysis, and a multidisciplinary approach with long-term follow-up.
Identifiants
pubmed: 36873080
doi: 10.1002/ccr3.6928
pii: CCR36928
pmc: PMC9979969
doi:
Types de publication
Case Reports
Langues
eng
Pagination
e6928Informations de copyright
© 2023 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.
Déclaration de conflit d'intérêts
None.
Références
Neurology. 2016 Jul 19;87(3):270-6
pubmed: 27316244
Am J Med Genet A. 2020 May;182(5):1041-1052
pubmed: 32100467
Am J Med Genet A. 2019 Aug;179(8):1585-1590
pubmed: 31175705
Cleft Palate Craniofac J. 2020 Feb;57(2):249-254
pubmed: 31401848
J Dermatol. 2020 Mar;47(3):306-310
pubmed: 31907964
Br J Hosp Med (Lond). 2019 Dec 2;80(12):732-733
pubmed: 31822179
Eur J Med Genet. 2013 Dec;56(12):678-82
pubmed: 24176758
J Eur Acad Dermatol Venereol. 2020 Sep;34(9):e476-e478
pubmed: 32215968
Front Pharmacol. 2020 Nov 30;11:604885
pubmed: 33329006
Hum Mutat. 2014 Jul;35(7):809-13
pubmed: 24700710
Clin Dysmorphol. 2018 Jul;27(3):78-83
pubmed: 29595750
Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):658-681
pubmed: 31828977
JCI Insight. 2018 Aug 9;3(15):
pubmed: 30089727
J Cell Mol Med. 2019 Aug;23(8):4962-4969
pubmed: 31119887
Am J Med Genet A. 2006 Aug 1;140(15):1673-80
pubmed: 16835932
Am J Med Genet A. 2011 Mar;155A(3):508-18
pubmed: 21344641
J Clin Invest. 2020 Mar 2;130(3):1116-1121
pubmed: 31821173