Trisomy 13 involves an extra chromosome 13 and was first described by Patau et al in 1960. It involves multiple congenital abnormalities that often allows early recognition by the clinician.


Key features:

(1) bilateral cleft lip and palate

(2) micro-ophthalmia or anophthalmia

(3) postaxial polydactyly of hands and/or feet

(4) holoprosencephaly with hypotelorism, cyclopia or cebocephaly (monkey-like)


Additional findings:

(1) localized cutis aplasia over the occipital region

(2) low set ears

(3) microcephaly

(4) retinal dysplasia

(5) mental retardation

(6) deafness

(7) single umbilical artery

(8) congenital heart disease (atrial septal defect, ventricular septal defect, double outlet right ventricle)

(9) convulsions

(10) omphalocele

(11) cystic renal dysplasia

(12) structural defects in the urinary tract associated with frequent urinary tract infections

(13) prominent nasal bridge

(14) capillary hemangioma on the forehead

(15) anterior cowlick

(16) pulmonary hypertension


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