Pediatric
Chromosomal anomalies
Trisomy 13

Author: Elena Puscasiu, M.D. (see Authors page)

Revised: 19 April 2016, last major update February 2016

Copyright: (c) 2002-2016, PathologyOutlines.com, Inc.

PubMed Search: Trisomy 13 [title] pediatric

Related: Congenital anomalies general, Trisomy 8, Trisomy 9, Trisomy 21, Trisomy 18


Cite this page: Trisomy 13. PathologyOutlines.com website. http://pathologyoutlines.com/topic/pediatrictrisomy13.html. Accessed April 23rd, 2017.
Terminology
  • Trisomy 13 syndrome, Patau syndrome
Epidemiology
  • It occurs in 1 in 5000 live births
  • The risk increases with increasing maternal age
Clinical Features
  • CNS: holoprosencephaly, severe intellectual disability
  • Craniofacial: microcephaly, sloping forehead, absent philtrum, cleft lip, cleft palate, cleft tongue, micrognathia
  • Eyes: microphthalmia, colobomata of iris, retinal dysplasia, shallow supraorbital ridges, upslanting, palpebral fissures, absent eyebrows, hypotelorism, anophthalmos, cyclopia
  • Nose: cebocephaly, ethmocephaly / proboscis
  • Ears: abnormal helices
  • Hands: distal palmar axial triradii, narrow hyperconvex fingernails, polydactyly of hands, simian crease
  • Feet: polydactyly of feet
  • Pelvis: hypoplasia
  • Cardiac: ventricular septal defect, patent ductus arteriosus, atrial septal defect, dextroposition
  • Abdominal: omphalocele
  • Renal: polycystic kidney, hydronephrosis, horseshoe kidney
  • Skin: capillary angiomata of forehead, localized scalp defects in parieto-occipital area, loose skin of the posterior neck
  • Genitalia: male cryptorchidism, female bicornuate uterus
Prognostic Factors
  • Most embryos with Patau syndrome are spontaneously aborted
  • 73% die by 4 months of age
  • 91% die in the first year of life
Clinical Images

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Features