Silver-Russell Syndrome Synonym: Russell-Silver Syndrome - Archive ouverte HAL Accéder directement au contenu
Chapitre D'ouvrage Année : 2019

Silver-Russell Syndrome Synonym: Russell-Silver Syndrome

Howard M Saal
  • Fonction : Auteur
  • PersonId : 1236760
Madeleine D Harbison
  • Fonction : Auteur
  • PersonId : 1236761
Irene Netchine

Résumé

Clinical characteristics Silver-Russell Syndrome (SRS) is typically characterized by asymmetric gestational growth restriction resulting in affected individuals being born small for gestational age, with relative macrocephaly at birth (head circumference ≥1.5 SD above birth weight and/or length), prominent forehead usually with frontal bossing, and frequently body asymmetry. This is followed by postnatal growth failure, and in some cases progressive limb length discrepancy and feeding difficulties. Additional clinical features include triangular facies, fifth-finger clinodactyly, and micrognathia with narrow chin. Except for the limb length asymmetry, the growth failure is proportionate and head growth normal. The average adult height in untreated individuals is ~3.1±1.4 SD below the mean. The Netchine-Harbison Clinical Scoring System (NH-CSS) is a sensitive diagnostic scoring system. Clinical diagnosis can be established in an individual who meets at least four of the NH-CSS clinical criteriaprominent forehead/frontal bossing and relative macrocephaly at birth plus two additional findings-and in whom other disorders have been ruled out.
Fichier principal
Vignette du fichier
Saal 2019 Gene Review.pdf (1.02 Mo) Télécharger le fichier
Origine Fichiers éditeurs autorisés sur une archive ouverte

Dates et versions

hal-04027182 , version 1 (31-03-2023)

Identifiants

  • HAL Id : hal-04027182 , version 1

Citer

Howard M Saal, Madeleine D Harbison, Irene Netchine. Silver-Russell Syndrome Synonym: Russell-Silver Syndrome. GeneReviews, 2019. ⟨hal-04027182⟩
44 Consultations
42 Téléchargements

Partager

Gmail Mastodon Facebook X LinkedIn More