Pathology
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Fetopathology and developmental pathology of the embryo and fetus
Marta Ježová, Josef Feit et al.
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Patau syndrome
Etiology

Full trisomy 13 is found in most cases. Translocation is present in 20% of the cases, mosaicism in less than 10%.

Clinical signs
  • incidence 1 : 4000 – 1 : 10000 live births
  • the risk of having a child with trisomy 13 is increased with advanced maternal age
  • prenatal wastage is high, up to 95% of trisomy 13 conceptuses are spontaneously aborted
  • median survival is 2,5 days and only 5% of liveborn infants with trisomy 13 survive longer than 6 months
  • longer survival is associated with mosaicism and partial trisomy, these cases also show milder phenotype
  • severe mental retardation
  • intrauterine growth retardation
  • characteristic triad: microphtalmia, cleft lip and palate, polydactyly
Macroscopic appearance
  • External features: microcephaly, receding forhead, low-set dysmorphic ears, clef lip and/or palate, broad nose, prominent glabella, scalp defects at vertex of head (aplasia cutis), postaxial polydactyly midline facial defects associated with holoprosencephaly
  • Cardiovascular system: various malformations are seen in 80% of the cases including ventricular septal defects, atrial septal defects, dextrocardia, pulmonary stenosis etc.
  • CNS malformations: in approximately 50% of cases; arhinencephaly — holoprosecephaly, corpus callosum agenesis, cerebellar anomalies neural tube defects
  • Ocular malformation:are seen in 90% of the cases: microphtalmy, coloboma, retinal dysplasia, cataracts
  • Deafness
  • Urogenital: micromulticystic kidneys, cryptorchidism is constant in males, penis and scrotum are small, uterus bicornis is commonly seen in females
  • Omphalocele, ectopic pancreas in spleen, Meckels diverticulum
  • Single umbilical artery

Patau syndrome, face (72148)

Patau syndrome, polydactyly (72149)

Pictures

Patau syndrome, fetus: Patau's syndrome, trisomy 13, Macro, autopsy (72147) Patau's syndrome, trisomy 13, polydactyly, Macro, autopsy (72149) Patau's syndrome, trisomy 13, face, Macro, autopsy (72148)

Patau syndrome, 28-week fetus: Patau's syndrome, trisomy 13, Macro, autopsy (73050) Patau's syndrome, trisomy 13, Macro, autopsy (73051) Patau's syndrome, trisomy 13, Macro, autopsy (73052)

Patau syndrome: Trisomy 13, Patau, Macro, autopsy (73313) Trisomy 13, Patau, Macro, autopsy (73314)

Patau syndrome: Trisomy 13, Patau, Macro, autopsy (73315) Trisomy 13, Patau, Macro, autopsy (73316) Trisomy 13, Patau, Macro, autopsy (73317) Trisomy 13, Patau, Macro, autopsy (73318) Trisomy 13, Patau, Macro, autopsy (73319) Trisomy 13, Patau, Macro, autopsy (73320) Trisomy 13, Patau, Macro, autopsy (73321) Trisomy 13, Patau, Macro, autopsy (73322)

Another case: Syndrome Patau, Macro, autopsy (74414) Syndrome Patau, Macro, autopsy (74415) Syndrome Patau, Macro, autopsy (74416) Syndrome Patau, Macro, autopsy (74417) Syndrome Patau, Macro, autopsy (74418)