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Keeping you on your toes: Smith-Lemli-Opitz Syndrome is an easily missed cause of developmental delays.
Coupe, Simone; Hertzog, Ashley; Foran, Carolyn; Tolun, Adviye Ayper; Suthern, Megan; Chung, Clara W T; Ellaway, Carolyn.
Afiliação
  • Coupe S; NSW Biochemical Genetics Service The Children's Hospital at Westmead Westmead New South Wales Australia.
  • Hertzog A; NSW Biochemical Genetics Service The Children's Hospital at Westmead Westmead New South Wales Australia.
  • Foran C; Faculty of Medicine and Health University of Sydney Westmead New South Wales Australia.
  • Tolun AA; NSW Biochemical Genetics Service The Children's Hospital at Westmead Westmead New South Wales Australia.
  • Suthern M; NSW Biochemical Genetics Service The Children's Hospital at Westmead Westmead New South Wales Australia.
  • Chung CWT; Faculty of Medicine and Health University of Sydney Westmead New South Wales Australia.
  • Ellaway C; Paediatric Department Wagga Wagga Base Hospital Wagga Wagga New South Wales Australia.
Clin Case Rep ; 11(2): e6920, 2023 Feb.
Article em En | MEDLINE | ID: mdl-36814711
ABSTRACT
Smith-Lemli-Opitz syndrome (SLOS) is a relatively common genetic cause of developmental delay and may only present in conjunction with 2,3 toe syndactyly. This case series illustrates a milder phenotype of SLOS, where the predominant findings are neurocognitive in the presence of 2,3 toe syndactyly.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Clin Case Rep Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Clin Case Rep Ano de publicação: 2023 Tipo de documento: Article