Original article
CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome
Compose Response

Plain text

  • No HTML tags allowed.
  • Web page addresses and e-mail addresses turn into links automatically.
  • Lines and paragraphs break automatically.
Author Information
First or given name, e.g. 'Peter'.
Your last, or family, name, e.g. 'MacMoody'.
Your email address, e.g.
Your role and/or occupation, e.g. 'Orthopedic Surgeon'.
Your organization or institution (if applicable), e.g. 'Royal Free Hospital'.
Statement of Competing Interests


  • Responses are moderated before posting and publication is at the absolute discretion of BMJ, however they are not peer-reviewed
  • Once published, you will not have the right to remove or edit your response. Removal or editing of responses is at BMJ's absolute discretion
  • If patients could recognise themselves, or anyone else could recognise a patient from your description, please obtain the patient's written consent to publication and send them to the editorial office before submitting your response [Patient consent forms]
  • By submitting this response you are agreeing to our full [Response terms and requirements]

Vertical Tabs

Other responses

Jump to comment:

  • Published on:
    Answer to >
    • Frederic Brioude, Doctor
    • Other Contributors:
      • Fr?d?ric Brioude, Isabelle Oliver, Maith? Tauber, Yves Le Bouc, Ir?ne Netchine

    RSS was first described in 1953 [1]. It is a clinically and genetically heterogeneous condition. Clinical diagnosis is based on various characteristics including slow growth before and after birth, relative macrocephaly, a prominent forehead at a young age, hemihypotrophy, and fifth finger clinodactyly. Five different diagnostic scoring systems of RSS have been published. These systems take into account most major clini...

    Show More
    Conflict of Interest:
    None declared.
  • Published on:
    Dubious classification Russell Silver Syndrome

    In 2007, Netchine et al. identified imprinting center region I (ICRI) loss of methylation (LOM) as a cause of typical Russell Silver syndrome (RSS) in 37 of 58 subjects who met their recruitment criteria of intrauterine growth retardation (IUGR/SGA) plus at least 3 of 5 criteria: 1) postnatal growth retardation; 2) relative macrocephaly at birth; 3) prominent forehead during early childhood; 4) body asymmetry, and; 5) fe...

    Show More
    Conflict of Interest:
    None declared.