Updated: 1/29/2019

Patau Syndrome

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Snapshot
  • A baby boy is born with microphPhotothalmia, microcephaly, cleft lip and palate, polydactyly, low-set ears, and "punched out" scalp lesions. Imaging confirms holoprosencephaly.
Introduction
  • Relatively common genetic abnormality, but less so than Down and Edward's syndrome
  • Characterized by Trisomy 13, partial trisomy of chromosome 13, or translocation
  • Not thought to be inherited, but caused by malformation of sperm or egg during meiosis
  • Associated with development of multiple comorbidites including
    • congenital heart disease
    • cleft lip and palate are common
     
  • Epidemiology
    • occurs in 1:10000 birth
    • more frequently observed in males > females (3:1)
Presentation
  • Symptoms
    • range widely depending on severity of the abnormality
  • Physical exam
    • very similar to Edward's syndrome with findings indicative of syndrome including
      • severe mental retardation
      • microphthalmia
      • microcephaly
      • micrognathia
      • cleft lip/palate
      • clenched hands with overlapping fingers
      • decreased muscle tone
      • abnormal forebrain structures
      • holoprosencephaly
      • polydactyly
      • cryptorchidism
      • congenital heart disease
      • "punched out" lesions of the scalp (missing skin)
Evaluation
  • Genetic testing
    • can be used to confirm diagnosis and establish specific chromosomal abnormality
      • i.e. Trisomy 13 versus chromosomal translocation or mosaicism
  • Echocardiogram
    • to assess for structural heart defects
  • EKG
    • to assess for cardiac conduction abnormalities
  • Amniocentesis
    • amniotic fluid sample is obtained with fine needle through the abdomen and uterus
    • performed during 15th week of pregnancy or later
    • less risk to child than chorionic villus sampling
    • usually indicated in mothers > 35 years old
  • Chorionic villus sampling (CVS)
    • placental tissue sample is retrieved via vagina and cervix
    • usually performed between 10th-12th week of pregnancy
    • more risk to child, but can be performed earlier
    • usually indicated in mothers > 35 years of age
Differential
  • Other congenital genetic abnormalities including Down syndrome, Edward's syndrome, and the like
Treatment
  • Medical management
    • there is no cure for Patau's syndrome
    • treatment is therefore guided on a case-by-case basis depending on sequelae
    • frequent screening
      • eye exam every year in infancy
      • hearing tests every 6-12 months
      • dental exams every 6 months
      • cervical spine x-rays around age 3-5 years
      • Pap smears/pelvic exams beginning age 21
      • thyroid testing every 12 months
    • treat associated pathology
      • congenital heart disease
      • mental retardation
Prognosis, Prevention, and Comlications
  • Prognosis
    • most cases do not survive past one year of life
    • some less severe cases do survive in early childhood and beyond, though rare
  • Prevention
    • there are no known preventive measures for Patau's syndrome
    • selective pregnancy termination has been employed following amnio/CVS
  • Complications
    • congenital heart disease, blindness, severe mental retardation may complicate survival

 

 

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