Twenty-year follow-up of the facial phenotype of Brazilian patients with Sotos syndrome.
Adolescent
Brazil
/ epidemiology
Child
Child, Preschool
Craniofacial Abnormalities
/ diagnostic imaging
Developmental Disabilities
/ complications
Face
/ diagnostic imaging
Female
Follow-Up Studies
Genetic Predisposition to Disease
Growth Disorders
/ complications
Histone-Lysine N-Methyltransferase
/ genetics
Humans
Infant
Intellectual Disability
/ complications
Male
Phenotype
Sotos Syndrome
/ diagnostic imaging
DNA mutational analysis
NSD1
Sotos syndrome
facial dysmorphism
gigantism
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
12 2021
12 2021
Historique:
received:
09
06
2021
accepted:
17
07
2021
pubmed:
19
8
2021
medline:
3
3
2022
entrez:
18
8
2021
Statut:
ppublish
Résumé
Sotos syndrome is characterized by overgrowth starting before birth through childhood with intellectual disability and craniofacial anomalies. The majority of patients are large for gestational age with developmental delay or intellectual disability. The majority of cases are caused by pathogenic variants in NSD1. The most consistent physical features in this disorder are facial dysmorphisms including prominent forehead, downslanted palpebral fissures, prognathism with a pointed chin, and a long and narrow face. We present a follow-up to a cohort of 11 individuals found to harbor heterozygous, pathogenic, or likely pathogenic variants in NSD1. We analyzed the facial dysmorphisms and the condition using retrospective over 20 years. Among these patients, followed in our medical genetics outpatient clinic for variable periods of time, all had a phenotype compatible with the characteristic Sotos syndrome facial features, which evolved with time and became superimposed with natural aging modifications. We present here a long-term follow-up of facial features of Brazilian patients with molecularly confirmed Sotos syndrome. In this largest Brazilian cohort of molecularly confirmed patients with Sotos syndrome to date, we provide a careful description of the facial phenotype, which becomes less pronounced with aging and possibly more difficult to recognize in adults. These results may have broad clinical implications for diagnosis and add to the global clinical delineation of this condition.
Identifiants
pubmed: 34405946
doi: 10.1002/ajmg.a.62454
doi:
Substances chimiques
Histone-Lysine N-Methyltransferase
EC 2.1.1.43
NSD1 protein, human
EC 2.1.1.43
Types de publication
Case Reports
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
3916-3923Informations de copyright
© 2021 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.
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