Natural history of Myhre syndrome.
Journal
Orphanet journal of rare diseases
ISSN: 1750-1172
Titre abrégé: Orphanet J Rare Dis
Pays: England
ID NLM: 101266602
Informations de publication
Date de publication:
30 07 2022
30 07 2022
Historique:
received:
03
02
2022
accepted:
14
07
2022
entrez:
30
7
2022
pubmed:
31
7
2022
medline:
3
8
2022
Statut:
epublish
Résumé
Myhre syndrome (MS) is a rare genetic disease characterized by skeletal disorders, facial features and joint limitation, caused by a gain of function mutation in SMAD4 gene. The natural history of MS remains incompletely understood. We recruited in a longitudinal retrospective study patients with molecular confirmed MS from the French reference center for rare skeletal dysplasia. We described natural history by chaining data from medical reports, clinical data warehouse, medical imaging and photographies. We included 12 patients. The median age was 22 years old (y/o). Intrauterine and postnatal growth retardation were consistently reported. In preschool age, neurodevelopment disorders were reported in 80% of children. Specifics facial and skeletal features, thickened skin and joint limitation occured mainly in school age children. The adolescence was marked by the occurrence of pulmonary arterial hypertension (PAH) and vascular stenosis. We reported for the first time recurrent strokes from the age of 26 y/o, caused by a moyamoya syndrome in one patient. Two patients died at late adolescence and in their 20 s respectively from PAH crises and mesenteric ischemia. Myhre syndrome is a progressive disease with severe multisystemic impairement and life-threathning complication requiring multidisciplinary monitoring.
Sections du résumé
BACKGROUND
Myhre syndrome (MS) is a rare genetic disease characterized by skeletal disorders, facial features and joint limitation, caused by a gain of function mutation in SMAD4 gene. The natural history of MS remains incompletely understood.
METHODS
We recruited in a longitudinal retrospective study patients with molecular confirmed MS from the French reference center for rare skeletal dysplasia. We described natural history by chaining data from medical reports, clinical data warehouse, medical imaging and photographies.
RESULTS
We included 12 patients. The median age was 22 years old (y/o). Intrauterine and postnatal growth retardation were consistently reported. In preschool age, neurodevelopment disorders were reported in 80% of children. Specifics facial and skeletal features, thickened skin and joint limitation occured mainly in school age children. The adolescence was marked by the occurrence of pulmonary arterial hypertension (PAH) and vascular stenosis. We reported for the first time recurrent strokes from the age of 26 y/o, caused by a moyamoya syndrome in one patient. Two patients died at late adolescence and in their 20 s respectively from PAH crises and mesenteric ischemia.
CONCLUSION
Myhre syndrome is a progressive disease with severe multisystemic impairement and life-threathning complication requiring multidisciplinary monitoring.
Identifiants
pubmed: 35907855
doi: 10.1186/s13023-022-02447-x
pii: 10.1186/s13023-022-02447-x
pmc: PMC9338657
doi:
Substances chimiques
Smad4 Protein
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
304Informations de copyright
© 2022. The Author(s).
Références
Pediatr Rheumatol Online J. 2020 Sep 11;18(1):72
pubmed: 32917212
Science. 1998 May 15;280(5366):1086-8
pubmed: 9582123
Nucleic Acids Res. 2014 Jan;42(Database issue):D966-74
pubmed: 24217912
Clin Dysmorphol. 2019 Jul;28(3):145-150
pubmed: 30921096
Genome Biol. 2001;2(8):REVIEWS3010
pubmed: 11532220
Clin Dysmorphol. 2018 Jan;27(1):12-14
pubmed: 28562390
Oncogene. 2000 Sep 7;19(38):4396-404
pubmed: 10980615
Am J Med Genet A. 2012 Aug;158A(8):1982-6
pubmed: 22711472
Genes Dev. 1998 Jan 1;12(1):107-19
pubmed: 9420335
Nat Genet. 2011 Dec 11;44(1):85-8
pubmed: 22158539
Eur J Hum Genet. 2014 Nov;22(11):1272-7
pubmed: 24424121
Adv Exp Med Biol. 2010;686:17-39
pubmed: 20824437
Am J Hum Genet. 2015 Jul 2;97(1):111-24
pubmed: 26119816
Mol Syndromol. 2020 Jan;10(6):339-343
pubmed: 32021609
Clin Dysmorphol. 2015 Apr;24(2):84-5
pubmed: 25486016
Am J Hum Genet. 2008 Nov;83(5):610-5
pubmed: 18950739
Dev Biol. 2005 Aug 15;284(2):311-22
pubmed: 16023633
Am J Med Genet A. 2020 Feb;182(2):328-337
pubmed: 31837202
Nucleic Acids Res. 2015 Jan;43(Database issue):D789-98
pubmed: 25428349
Front Pediatr. 2020 Feb 27;8:72
pubmed: 32175297
Clin Genet. 2014 Jun;85(6):503-13
pubmed: 24580733
Am J Med Genet A. 2021 Mar;185(3):702-709
pubmed: 33369056
Pediatr Int. 2017 Nov;59(11):1205-1206
pubmed: 29359479
Am J Med Genet A. 2013 May;161A(5):1164-6
pubmed: 23610053
Eur J Hum Genet. 2014 Aug;22(8):988-94
pubmed: 24398790
Otol Neurotol. 2014 Oct;35(9):e253-5
pubmed: 24841914
Am J Med Genet A. 2019 Dec;179(12):2494-2499
pubmed: 31595668
Am J Med Genet A. 2014 Jul;164A(7):1835-40
pubmed: 24715504
Dev Dyn. 2009 Aug;238(8):1897-908
pubmed: 19582869
J Biomed Inform. 2018 Apr;80:52-63
pubmed: 29501921
Am J Med Genet A. 2015 Dec;167A(12):2893-901
pubmed: 26420300
Eur J Pediatr. 2016 Oct;175(10):1307-15
pubmed: 27562837
N Engl J Med. 2018 Oct 11;379(15):1452-1462
pubmed: 30304648
Clin Chim Acta. 2020 Jan;500:128-134
pubmed: 31654632
Am J Hum Genet. 2012 Jan 13;90(1):161-9
pubmed: 22243968
Clin Genet. 1981 Jul;20(1):1-5
pubmed: 7296942
Am J Med Genet A. 2018 Feb;176(2):426-430
pubmed: 29230941
Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):145-53
pubmed: 22791552
J Autism Dev Disord. 2019 Jul;49(7):3031-3035
pubmed: 30968316