Updated: 3/30/2018

Phocomelia

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Snapshot
  • Following the Photo release of an over-the-counter anti-emetic medication, several thousand children were born with varying degrees of aural and limb deformities.
Introduction
  • Congenital deformity of the limbs
    • linked to chromosome 8
  • Deformities can range from face, nose, ears, limbs, and vascular abnormalities
  • Most often associated with the use of thalidomide
  • Can occur spontaneously via autosomal recessive inheritance
  • Epidemiology
    • peak incidence following release of OTC thalidomide in Germany in 1960
    • since awareness of thalidomide association, phecomelia has grown extremely rare
Presentation
  • Symptoms
    • undeveloped limbs
    • short arms
    • underdeveloped, absent, or fused digits
    • small head
    • wide-set eyes
    • cleft lip and/or palate
    • small chin
  • Physical exam
    • underdeveloped or absent pelvic girdle
    • growth retardation in utero and after birth
    • hypertelorism
    • microcephaly
    • encephalocele
    • abnormal uterus
    • kidney and cardiac malformations
Evaluation
  • Diagnosis is based primarily on clinical observations
  • Imaging
    • may be helpful in identifying extent of underdevelopment
    • and further organ system involvement
Differential
  •  Treacher-Collins syndrome
Treatment
  • Medical management
    • prostheses
      • may be adequate substitude for missing limbs, teeth, etc
  • Surgical intervention
    • reconstructive surgery
      • usually limited due to absence of significant amount of tissue, nerves, and bone
Prognosis, Prevention, and Comlication
  • Prognosis
    • only 40% of infants born with this disorder survive
  • Prevention
    • avoid exposure to thalidomide during pregnancy
  • Complications
    • permanent physical deformity leads to both physical limitation and emotional burden for children

 

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