Evolving clinical manifestations of mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome: From infancy to adulthood in a 31-year-old woman.
Am J Med Genet A
; 185(3): 995-998, 2021 03.
Article
em En
| MEDLINE
| ID: mdl-33369179
ABSTRACT
Mandibular hypoplasia, deafness, progeroid feature, and lipodystrophy syndrome (MDPL, MIM# 615381) is an extremely rare and recently recognized early adult onset of progeroid syndrome, with features of generalized lipodystrophy, dysmorphic features, telangiectasia, early onset hearing loss, insulin resistance, and dyslipidemia. Here, we present a 31-year-old Chinese woman with MDPL, harboring the recurrent pathogenic variant p.(Ser605del) in POLD1, illustrating the evolving manifestations of this premature aging disorder from infancy to adulthood.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Progéria
/
Anormalidades Múltiplas
/
DNA Polimerase III
/
Lipodistrofia Generalizada Congênita
/
Micrognatismo
Limite:
Adult
/
Female
/
Humans
Idioma:
En
Revista:
Am J Med Genet A
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
Hong Kong