A further case of a new syndrome including midface retraction, hypertrichosis, and skeletal anomalies.

Lignende værker

• Symphalangism, short stature, skeletal anomalies, and accessory testis: a new malformation syndrome.
  af: Theodor, R, et al.
  Udgivet: (1979)
• LEOPARD syndrome with rare skeletal anomalies: A case report
  af: Kohli, Sonali, et al.
  Udgivet: (2013)
• Novel variants in CDH2 are associated with a new syndrome including Peters anomaly
  af: Reis, Linda M., et al.
  Udgivet: (2019)
• Novel mutation in ABBC9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype
  af: Pachajoa, Harry, et al.
  Udgivet: (2018)
• Novel mutation in ABBC9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype [Corrigendum]
  Udgivet: (2018)