Absent digit in Russell-Silver syndrome: expanding the clinical spectrum of a well known syndrome

Author:

Strong Alanna,McDougall Carey,Zackai Elaine

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology and Child Health

Reference10 articles.

1. Paternally inherited IGF2 mutation and growth restriction.;Begemann;N Engl J Med,2015

2. Silver-Russell syndrome with absence of digits and syndactylism of the fingers.;Keppen;Clin Genet,1983

3. De novo mutation of paternal IGF2 gene causing Silver-Russell syndrome in a sporadic patient.;Liu;Front Genet,2017

4. Congenital hypoplastic thumb in the silver syndrome–a case report and review of upper extremity anomalies in the world literature.;Moss;J Hand Surg Am,1983

5. A syndrome of intra-uterine dwarfism recognizable at birth with cranio-facial dysostosis, disproportionately short arms, and other anomalies (5 examples).;Russell;Proc R Soc Med,1954

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1. The experience of one pediatric geneticist with telemedicine‐based clinical diagnosis;American Journal of Medical Genetics Part A;2022-07-30

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