Myhre syndrome with facial paralysis and branch pulmonary stenosis

Clin Dysmorphol. 2015 Apr;24(2):84-5. doi: 10.1097/MCD.0000000000000068.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Cryptorchidism / diagnosis
  • Cryptorchidism / genetics*
  • Cryptorchidism / physiopathology
  • Facial Paralysis / genetics*
  • Facial Paralysis / physiopathology
  • Facies
  • Female
  • Growth Disorders / diagnosis
  • Growth Disorders / genetics*
  • Growth Disorders / physiopathology
  • Hand Deformities, Congenital / diagnosis
  • Hand Deformities, Congenital / genetics*
  • Hand Deformities, Congenital / physiopathology
  • Humans
  • Hypertrophy / diagnosis
  • Hypertrophy / genetics*
  • Hypertrophy / physiopathology
  • Infant, Newborn
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Intellectual Disability / physiopathology
  • Joint Diseases / diagnosis
  • Joint Diseases / genetics*
  • Joint Diseases / physiopathology
  • Pulmonary Valve Stenosis / genetics
  • Pulmonary Valve Stenosis / physiopathology
  • Smad4 Protein / genetics

Substances

  • SMAD4 protein, human
  • Smad4 Protein

Supplementary concepts

  • Growth mental deficiency syndrome of Myhre